Canonical Allele Identifier: CA2466674895
Gene: TAFAZZIN HGNC NCBI
DNASE1L1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154412093G= , CM000685.2:g.154412093G= GRCh38
NC_000023.10:g.153640430G= , CM000685.1:g.153640430G= GRCh37
NC_000023.9:g.153293624G= NCBI36
NG_009634.1:g.5554G=
NG_012884.2:g.4996C=
NG_009634.2:g.5559G=

Transcript Alleles

HGVS Amino-acid change
ENST00000698234.1:n.545G= (TAFAZZIN)
ENST00000698235.1:n.104G= (TAFAZZIN)
ENST00000698317.1:n.79G= (TAFAZZIN)
ENST00000475699.6:c.171G= (TAFAZZIN) ENSP00000419854.3:p.Met57=
ENST00000476800.2:n.82G= (TAFAZZIN)
ENST00000483674.3:n.8G= (TAFAZZIN)
ENST00000601016.6:c.117G= (TAFAZZIN) MANE Select ENSP00000469981.1:p.Met39=
ENST00000612012.5:c.117G= (TAFAZZIN) ENSP00000482070.2:p.Met39=
ENST00000612460.5:c.117G= (TAFAZZIN) ENSP00000481037.1:p.Met39=
ENST00000614595.2:n.475G= (TAFAZZIN)
ENST00000615658.5:n.430G= (TAFAZZIN)
ENST00000616020.5:c.171G= (TAFAZZIN) ENSP00000483636.2:p.Met57=
ENST00000617701.5:c.117G= (TAFAZZIN) ENSP00000481645.1:p.Met39=
ENST00000621647.2:n.170G= (TAFAZZIN)
ENST00000652358.1:c.-57+141G= (TAFAZZIN) ENSP00000498464.1:n.-57+141G=
ENST00000652390.1:c.36G= (TAFAZZIN) ENSP00000498858.1:p.Met12=
ENST00000652476.1:n.278G= (TAFAZZIN)
ENST00000652682.1:c.117G= (TAFAZZIN) ENSP00000498288.1:p.Met39=
ENST00000652685.1:n.169G= (TAFAZZIN)
ENST00000309585.9:c.-375C= (DNASE1L1) ENSP00000309168.5:n.-375C=
ENST00000369776.8:c.163+87G= (TAFAZZIN) ENSP00000358791.4:n.163+87G=
ENST00000439735.2:c.117G= (TAFAZZIN) ENSP00000398193.1:p.Met39=
ENST00000475699.5:c.117G= (TAFAZZIN) ENSP00000419854.2:p.Met39=
ENST00000601016.5:c.117G= (TAFAZZIN) ENSP00000469981.1:p.Met39=
ENST00000612012.4:c.171G= (TAFAZZIN) ENSP00000482070.1:p.Met57=
ENST00000612460.4:c.117G= (TAFAZZIN) ENSP00000481037.1:p.Met39=
ENST00000613002.4:c.117G= (TAFAZZIN) ENSP00000478154.1:p.Met39=
ENST00000613634.4:n.437G= (TAFAZZIN)
ENST00000614595.1:n.336G= (TAFAZZIN)
ENST00000615658.4:n.443G= (TAFAZZIN)
ENST00000615986.4:c.117G= (TAFAZZIN) ENSP00000480133.1:p.Met39=
ENST00000616020.4:c.171G= (TAFAZZIN) ENSP00000483636.1:p.Met57=
ENST00000617701.4:c.117G= (TAFAZZIN) ENSP00000481645.1:p.Met39=
ENST00000620808.4:c.117G= (TAFAZZIN) ENSP00000479311.1:p.Met39=
ENST00000621647.1:n.402G= (TAFAZZIN)
NM_000116.4:c.117G= (TAFAZZIN) NP_000107.1:p.Met39=
NM_001303465.1:c.171G= (TAFAZZIN) NP_001290394.1:p.Met57=
NM_181311.3:c.117G= (TAFAZZIN) NP_851828.1:p.Met39=
NM_181312.3:c.117G= (TAFAZZIN) NP_851829.1:p.Met39=
NM_181313.3:c.117G= (TAFAZZIN) NP_851830.1:p.Met39=
NR_024048.2:n.443G= (TAFAZZIN)
XM_006724836.1:c.171G= (TAFAZZIN) XP_006724899.1:p.Met57=
XM_006724837.1:c.171G= (TAFAZZIN) XP_006724900.1:p.Met57=
XM_006724839.1:c.171G= (TAFAZZIN) XP_006724902.1:p.Met57=
XM_006724841.2:c.-178G= (TAFAZZIN) XP_006724904.1:n.-178G=
XM_006724842.2:c.-178G= (TAFAZZIN) XP_006724905.1:n.-178G=
XM_011531189.1:c.171G= (TAFAZZIN) XP_011529491.1:p.Met57=
XR_938511.1:n.474G= (TAFAZZIN)
XM_006724841.4:c.-178G= (TAFAZZIN) XP_006724904.1:n.-178G=
XM_006724842.4:c.-178G= (TAFAZZIN) XP_006724905.1:n.-178G=
XM_017029332.1:c.-1829C= (DNASE1L1) XP_016884821.1:n.-1829C=
XM_017029761.1:c.117G= (TAFAZZIN) XP_016885250.1:p.Met39=
XM_017029762.1:c.171G= (TAFAZZIN) XP_016885251.1:p.Met57=
XM_017029763.1:c.117G= (TAFAZZIN) XP_016885252.1:p.Met39=
XM_017029765.2:c.-178G= (TAFAZZIN) XP_016885254.1:n.-178G=
XM_024452431.1:c.171G= (TAFAZZIN) XP_024308199.1:p.Met57=
NM_000116.5:c.117G= (TAFAZZIN) MANE Select NP_000107.1:p.Met39=
NM_001009933.3:c.-375C= (DNASE1L1) NP_001009933.1:n.-375C=
NM_001303465.2:c.171G= (TAFAZZIN) NP_001290394.1:p.Met57=
NM_181311.4:c.117G= (TAFAZZIN) NP_851828.1:p.Met39=
NM_181312.4:c.117G= (TAFAZZIN) NP_851829.1:p.Met39=
NM_181313.4:c.117G= (TAFAZZIN) NP_851830.1:p.Met39=
NR_024048.3:n.422G= (TAFAZZIN)
NM_001009932.3:c.-633C= (DNASE1L1) NP_001009932.1:n.-633C=
NM_001009934.3:c.-290C= (DNASE1L1) NP_001009934.1:n.-290C=