Canonical Allele Identifier: CA273540
Gene: TAFAZZIN HGNC NCBI

Linked Data

ClinVar Variation Id: 177990
ClinVar RCV Id: RCV000154666
dbSNP Id: rs727504431

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154420212G>T , CM000685.2:g.154420212G>T GRCh38
NC_000023.10:g.153648551G>T , CM000685.1:g.153648551G>T GRCh37
NC_000023.9:g.153301745G>T NCBI36
NG_009634.1:g.13675G>T
NG_009634.2:g.13678G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000470127.2:n.1120G>T
ENST00000475699.6:c.611G>T ENSP00000419854.3:p.Gly204Val
ENST00000483674.3:n.529G>T
ENST00000601016.6:c.647G>T MANE Select ENSP00000469981.1:p.Gly216Val
ENST00000612012.5:c.605G>T ENSP00000482070.2:p.Gly202Val
ENST00000612460.5:c.557G>T ENSP00000481037.1:p.Gly186Val
ENST00000614595.2:n.1994G>T
ENST00000615658.5:n.1236G>T
ENST00000616020.5:n.659G>T ENSP00000483636.2:p.Gly220Val
ENST00000617701.5:c.*660G>T ENSP00000481645.1:n.*660G>T
ENST00000652354.1:c.329G>T ENSP00000498734.1:p.Gly110Val
ENST00000652358.1:c.440G>T ENSP00000498464.1:p.Gly147Val
ENST00000652390.1:n.566G>T ENSP00000498858.1:p.Gly189Val
ENST00000652476.1:n.1313G>T
ENST00000652644.1:n.260G>T ENSP00000498496.1:p.Gly87Val
ENST00000652682.1:c.704G>T ENSP00000498288.1:p.Gly235Val
ENST00000652685.1:n.1000G>T
ENST00000369776.8:c.557G>T ENSP00000358791.4:p.Gly186Val
ENST00000426231.5:n.644G>T
ENST00000475699.5:c.605G>T ENSP00000419854.2:p.Gly202Val
ENST00000494912.5:n.1336G>T
ENST00000498029.1:n.105G>T
ENST00000601016.5:c.647G>T ENSP00000469981.1:p.Gly216Val
ENST00000612460.4:c.557G>T ENSP00000481037.1:p.Gly186Val
ENST00000613002.4:c.515G>T ENSP00000478154.1:p.Gly172Val
ENST00000615986.4:c.*375G>T ENSP00000480133.1:n.*375G>T
NM_000116.4:c.647G>T NP_000107.1:p.Gly216Val
NM_001303465.1:c.659G>T NP_001290394.1:p.Gly220Val
NM_181311.3:c.557G>T NP_851828.1:p.Gly186Val
NM_181312.3:c.605G>T NP_851829.1:p.Gly202Val
NM_181313.3:c.515G>T NP_851830.1:p.Gly172Val
NR_024048.2:n.989G>T
XM_006724836.1:c.701G>T XP_006724899.1:p.Gly234Val
XM_006724837.1:c.686G>T XP_006724900.1:p.Gly229Val
XM_006724839.1:c.569G>T XP_006724902.1:p.Gly190Val
XM_006724841.2:c.440G>T XP_006724904.1:p.Gly147Val
XM_006724842.2:c.350G>T XP_006724905.1:p.Gly117Val
XM_011531189.1:c.488G>T XP_011529491.1:p.Gly163Val
XM_011531190.1:c.440G>T XP_011529492.1:p.Gly147Val
XM_011531191.1:c.371G>T XP_011529493.1:p.Gly124Val
XM_011531192.1:c.368G>T XP_011529494.1:p.Gly123Val
XR_938511.1:n.995G>T
XM_006724841.4:c.440G>T XP_006724904.1:p.Gly147Val
XM_006724842.4:c.350G>T XP_006724905.1:p.Gly117Val
XM_011531191.2:c.371G>T XP_011529493.1:p.Gly124Val
XM_017029761.1:c.632G>T XP_016885250.1:p.Gly211Val
XM_017029762.1:c.611G>T XP_016885251.1:p.Gly204Val
XM_017029763.1:c.434G>T XP_016885252.1:p.Gly145Val
XM_017029764.1:c.368G>T XP_016885253.1:p.Gly123Val
XM_017029765.2:c.308G>T XP_016885254.1:p.Gly103Val
XM_024452431.1:c.605G>T XP_024308199.1:p.Gly202Val
NM_000116.5:c.647G>T MANE Select NP_000107.1:p.Gly216Val
NM_001303465.2:c.659G>T NP_001290394.1:p.Gly220Val
NM_181311.4:c.557G>T NP_851828.1:p.Gly186Val
NM_181312.4:c.605G>T NP_851829.1:p.Gly202Val
NM_181313.4:c.515G>T NP_851830.1:p.Gly172Val
NR_024048.3:n.968G>T