Canonical Allele Identifier: CA255721
Gene: TAFAZZIN HGNC NCBI

Linked Data

ClinVar Variation Id: 11110
ClinVar RCV Id: RCV000011859
dbSNP Id: rs104894942

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154413248C>A , CM000685.2:g.154413248C>A GRCh38
NC_000023.10:g.153641585C>A , CM000685.1:g.153641585C>A GRCh37
NC_000023.9:g.153294779C>A NCBI36
NG_009634.1:g.6709C>A
NG_012884.2:g.3841G>T
NG_009634.2:g.6714C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000470127.2:n.329C>A
ENST00000475699.6:c.334C>A ENSP00000419854.3:p.Arg112Ser
ENST00000476800.2:n.1237C>A
ENST00000483674.3:n.171C>A
ENST00000601016.6:c.280C>A MANE Select ENSP00000469981.1:p.Arg94Ser
ENST00000612012.5:c.280C>A ENSP00000482070.2:p.Arg94Ser
ENST00000612460.5:c.280C>A ENSP00000481037.1:p.Arg94Ser
ENST00000614595.2:n.1630C>A
ENST00000615658.5:n.593C>A
ENST00000616020.5:n.334C>A ENSP00000483636.2:p.Arg112Ser
ENST00000617701.5:c.280C>A ENSP00000481645.1:p.Arg94Ser
ENST00000621647.2:n.333C>A
ENST00000652354.1:c.4C>A ENSP00000498734.1:p.Arg2Ser
ENST00000652358.1:c.-15C>A ENSP00000498464.1:n.-15C>A
ENST00000652390.1:n.199C>A ENSP00000498858.1:p.Arg67Ser
ENST00000652476.1:n.441C>A
ENST00000652682.1:c.280C>A ENSP00000498288.1:p.Arg94Ser
ENST00000652685.1:n.332C>A
ENST00000369776.8:c.205C>A ENSP00000358791.4:p.Arg69Ser
ENST00000426231.5:n.96C>A
ENST00000439735.2:c.280C>A ENSP00000398193.1:p.Arg94Ser
ENST00000475699.5:c.280C>A ENSP00000419854.2:p.Arg94Ser
ENST00000476679.5:n.193C>A
ENST00000476800.1:n.158C>A
ENST00000479875.1:n.309C>A
ENST00000483780.5:n.54C>A
ENST00000601016.5:c.280C>A ENSP00000469981.1:p.Arg94Ser
ENST00000612012.4:c.334C>A ENSP00000482070.1:p.Arg112Ser
ENST00000612460.4:c.280C>A ENSP00000481037.1:p.Arg94Ser
ENST00000613002.4:c.280C>A ENSP00000478154.1:p.Arg94Ser
ENST00000613634.4:n.600C>A
ENST00000615658.4:n.606C>A
ENST00000615986.4:c.280C>A ENSP00000480133.1:p.Arg94Ser
ENST00000616020.4:c.334C>A ENSP00000483636.1:p.Arg112Ser
ENST00000617701.4:c.280C>A ENSP00000481645.1:p.Arg94Ser
ENST00000620808.4:c.280C>A ENSP00000479311.1:p.Arg94Ser
ENST00000621647.1:n.565C>A
NM_000116.4:c.280C>A NP_000107.1:p.Arg94Ser
NM_001303465.1:c.334C>A NP_001290394.1:p.Arg112Ser
NM_181311.3:c.280C>A NP_851828.1:p.Arg94Ser
NM_181312.3:c.280C>A NP_851829.1:p.Arg94Ser
NM_181313.3:c.280C>A NP_851830.1:p.Arg94Ser
NR_024048.2:n.606C>A
XM_006724836.1:c.334C>A XP_006724899.1:p.Arg112Ser
XM_006724837.1:c.334C>A XP_006724900.1:p.Arg112Ser
XM_006724839.1:c.334C>A XP_006724902.1:p.Arg112Ser
XM_006724841.2:c.-15C>A XP_006724904.1:n.-15C>A
XM_006724842.2:c.-15C>A XP_006724905.1:n.-15C>A
XM_011531189.1:c.334C>A XP_011529491.1:p.Arg112Ser
XM_011531190.1:c.-15C>A XP_011529492.1:n.-15C>A
XM_011531191.1:c.4C>A XP_011529493.1:p.Arg2Ser
XM_011531192.1:c.-118C>A XP_011529494.1:n.-118C>A
XR_938511.1:n.637C>A
XM_006724841.4:c.-15C>A XP_006724904.1:n.-15C>A
XM_006724842.4:c.-15C>A XP_006724905.1:n.-15C>A
XM_011531191.2:c.4C>A XP_011529493.1:p.Arg2Ser
XM_017029761.1:c.280C>A XP_016885250.1:p.Arg94Ser
XM_017029762.1:c.334C>A XP_016885251.1:p.Arg112Ser
XM_017029763.1:c.280C>A XP_016885252.1:p.Arg94Ser
XM_017029764.1:c.-118C>A XP_016885253.1:n.-118C>A
XM_017029765.2:c.-15C>A XP_016885254.1:n.-15C>A
XM_024452431.1:c.334C>A XP_024308199.1:p.Arg112Ser
NM_000116.5:c.280C>A MANE Select NP_000107.1:p.Arg94Ser
NM_001303465.2:c.334C>A NP_001290394.1:p.Arg112Ser
NM_181311.4:c.280C>A NP_851828.1:p.Arg94Ser
NM_181312.4:c.280C>A NP_851829.1:p.Arg94Ser
NM_181313.4:c.280C>A NP_851830.1:p.Arg94Ser
NR_024048.3:n.585C>A