Canonical Allele Identifier: CA415178015
Community Standard Title: NM_000116.5(TAFAZZIN):c.27C>A (p.Phe9Leu)
Gene: TAFAZZIN HGNC NCBI
DNASE1L1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154411870C>A , CM000685.2:g.154411870C>A GRCh38
NC_000023.10:g.153640207C>A , CM000685.1:g.153640207C>A GRCh37
NC_000023.9:g.153293401C>A NCBI36
NG_009634.1:g.5331C>A
NG_012884.2:g.5219G>T
NG_009634.2:g.5336C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000116.5:c.27C>A (TAFAZZIN) MANE Select NP_000107.1:p.Phe9Leu
ENST00000601016.6:c.27C>A (TAFAZZIN) MANE Select ENSP00000469981.1:p.Phe9Leu
NM_000116.4:c.27C>A (TAFAZZIN) NP_000107.1:p.Phe9Leu
NM_001009932.2:c.-431+21G>T (DNASE1L1) NP_001009932.1:n.-431+21G>T
NM_001009932.3:c.-431+21G>T (DNASE1L1) NP_001009932.1:n.-431+21G>T
NM_001009933.2:c.-173+21G>T (DNASE1L1) NP_001009933.1:n.-173+21G>T
NM_001009933.3:c.-173+21G>T (DNASE1L1) NP_001009933.1:n.-173+21G>T
NM_001009934.2:c.-88+21G>T (DNASE1L1) NP_001009934.1:n.-88+21G>T
NM_001009934.3:c.-88+21G>T (DNASE1L1) NP_001009934.1:n.-88+21G>T
NM_001303465.1:c.27C>A (TAFAZZIN) NP_001290394.1:p.Phe9Leu
NM_001303465.2:c.27C>A (TAFAZZIN) NP_001290394.1:p.Phe9Leu
NM_181311.3:c.27C>A (TAFAZZIN) NP_851828.1:p.Phe9Leu
NM_181311.4:c.27C>A (TAFAZZIN) NP_851828.1:p.Phe9Leu
NM_181312.3:c.27C>A (TAFAZZIN) NP_851829.1:p.Phe9Leu
NM_181312.4:c.27C>A (TAFAZZIN) NP_851829.1:p.Phe9Leu
NM_181313.3:c.27C>A (TAFAZZIN) NP_851830.1:p.Phe9Leu
NM_181313.4:c.27C>A (TAFAZZIN) NP_851830.1:p.Phe9Leu
NR_024048.2:n.353C>A (TAFAZZIN)
NR_024048.3:n.332C>A (TAFAZZIN)
ENST00000309585.9:c.-173+21G>T (DNASE1L1) ENSP00000309168.5:n.-173+21G>T
ENST00000369776.8:c.27C>A (TAFAZZIN) ENSP00000358791.4:p.Phe9Leu
ENST00000369809.5:c.-431+21G>T (DNASE1L1) ENSP00000358824.1:n.-431+21G>T
ENST00000393638.5:c.-88+21G>T (DNASE1L1) ENSP00000377255.1:n.-88+21G>T
ENST00000424626.5:c.-431+21G>T (DNASE1L1) ENSP00000393000.1:n.-431+21G>T
ENST00000432135.1:c.-569+21G>T (DNASE1L1) ENSP00000410281.1:n.-569+21G>T
ENST00000439735.2:c.27C>A (TAFAZZIN) ENSP00000398193.1:p.Phe9Leu
ENST00000451865.5:c.-88+21G>T (DNASE1L1) ENSP00000393346.1:n.-88+21G>T
ENST00000475699.5:c.27C>A (TAFAZZIN) ENSP00000419854.2:p.Phe9Leu
ENST00000475699.6:c.27C>A (TAFAZZIN) ENSP00000419854.3:p.Phe9Leu
ENST00000601016.5:c.27C>A (TAFAZZIN) ENSP00000469981.1:p.Phe9Leu
ENST00000612012.4:c.27C>A (TAFAZZIN) ENSP00000482070.1:p.Phe9Leu
ENST00000612012.5:c.27C>A (TAFAZZIN) ENSP00000482070.2:p.Phe9Leu
ENST00000612460.4:c.27C>A (TAFAZZIN) ENSP00000481037.1:p.Phe9Leu
ENST00000612460.5:c.27C>A (TAFAZZIN) ENSP00000481037.1:p.Phe9Leu
ENST00000613002.4:c.27C>A (TAFAZZIN) ENSP00000478154.1:p.Phe9Leu
ENST00000613634.4:n.347C>A (TAFAZZIN)
ENST00000614595.1:n.246C>A (TAFAZZIN)
ENST00000614595.2:n.252C>A (TAFAZZIN)
ENST00000615658.4:n.353C>A (TAFAZZIN)
ENST00000615658.5:n.286C>A (TAFAZZIN)
ENST00000615986.4:c.27C>A (TAFAZZIN) ENSP00000480133.1:p.Phe9Leu
ENST00000616020.4:c.27C>A (TAFAZZIN) ENSP00000483636.1:p.Phe9Leu
ENST00000616020.5:c.27C>A (TAFAZZIN) ENSP00000483636.2:p.Phe9Leu
ENST00000617701.4:c.27C>A (TAFAZZIN) ENSP00000481645.1:p.Phe9Leu
ENST00000617701.5:c.27C>A (TAFAZZIN) ENSP00000481645.1:p.Phe9Leu
ENST00000620808.4:c.27C>A (TAFAZZIN) ENSP00000479311.1:p.Phe9Leu
ENST00000621647.1:n.312C>A (TAFAZZIN)
ENST00000621647.2:n.80C>A (TAFAZZIN)
ENST00000652476.1:n.188C>A (TAFAZZIN)
ENST00000652682.1:c.27C>A (TAFAZZIN) ENSP00000498288.1:p.Phe9Leu
ENST00000652685.1:n.79C>A (TAFAZZIN)
ENST00000698234.1:n.322C>A (TAFAZZIN)
ENST00000698235.1:n.14C>A (TAFAZZIN)
XM_005277829.3:c.-569+21G>T (DNASE1L1) XP_005277886.1:n.-569+21G>T
XM_005277829.4:c.-569+21G>T (DNASE1L1) XP_005277886.1:n.-569+21G>T
XM_006724836.1:c.27C>A (TAFAZZIN) XP_006724899.1:p.Phe9Leu
XM_006724837.1:c.27C>A (TAFAZZIN) XP_006724900.1:p.Phe9Leu
XM_006724839.1:c.27C>A (TAFAZZIN) XP_006724902.1:p.Phe9Leu
XM_006724841.2:c.-268C>A (TAFAZZIN) XP_006724904.1:n.-268C>A
XM_006724841.4:c.-268C>A (TAFAZZIN) XP_006724904.1:n.-268C>A
XM_006724842.2:c.-268C>A (TAFAZZIN) XP_006724905.1:n.-268C>A
XM_006724842.4:c.-268C>A (TAFAZZIN) XP_006724905.1:n.-268C>A
XM_011531189.1:c.27C>A (TAFAZZIN) XP_011529491.1:p.Phe9Leu
XM_017029332.1:c.-1627+21G>T (DNASE1L1) XP_016884821.1:n.-1627+21G>T
XM_017029761.1:c.27C>A (TAFAZZIN) XP_016885250.1:p.Phe9Leu
XM_017029762.1:c.27C>A (TAFAZZIN) XP_016885251.1:p.Phe9Leu
XM_017029763.1:c.27C>A (TAFAZZIN) XP_016885252.1:p.Phe9Leu
XM_017029765.2:c.-268C>A (TAFAZZIN) XP_016885254.1:n.-268C>A
XM_024452431.1:c.27C>A (TAFAZZIN) XP_024308199.1:p.Phe9Leu
XR_938511.1:n.330C>A (TAFAZZIN)