Canonical Allele Identifier: CA255720
Gene: TAFAZZIN HGNC NCBI

Linked Data

ClinVar Variation Id: 11108
ClinVar RCV Id: RCV000011857
dbSNP Id: rs104894937

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154413549T>C , CM000685.2:g.154413549T>C GRCh38
NC_000023.10:g.153641886T>C , CM000685.1:g.153641886T>C GRCh37
NC_000023.9:g.153295080T>C NCBI36
NG_009634.1:g.7010T>C
NG_012884.2:g.3540A>G
NG_009634.2:g.7015T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000470127.2:n.630T>C
ENST00000475699.6:c.406T>C ENSP00000419854.3:p.Cys136Arg
ENST00000476800.2:n.1538T>C
ENST00000483674.3:n.243T>C
ENST00000601016.6:c.352T>C MANE Select ENSP00000469981.1:p.Cys118Arg
ENST00000612012.5:c.352T>C ENSP00000482070.2:p.Cys118Arg
ENST00000612460.5:c.352T>C ENSP00000481037.1:p.Cys118Arg
ENST00000614595.2:n.1789T>C
ENST00000615658.5:n.665T>C
ENST00000616020.5:n.406T>C ENSP00000483636.2:p.Cys136Arg
ENST00000617701.5:c.*170T>C ENSP00000481645.1:n.*170T>C
ENST00000621647.2:n.634T>C
ENST00000652354.1:c.76T>C ENSP00000498734.1:p.Cys26Arg
ENST00000652358.1:c.145T>C ENSP00000498464.1:p.Cys49Arg
ENST00000652390.1:n.271T>C ENSP00000498858.1:p.Cys91Arg
ENST00000652476.1:n.742T>C
ENST00000652682.1:c.352T>C ENSP00000498288.1:p.Cys118Arg
ENST00000652685.1:n.510T>C
ENST00000369776.8:c.277T>C ENSP00000358791.4:p.Cys93Arg
ENST00000426231.5:n.268T>C
ENST00000439735.2:c.352T>C ENSP00000398193.1:p.Cys118Arg
ENST00000470127.1:n.21T>C
ENST00000475699.5:c.352T>C ENSP00000419854.2:p.Cys118Arg
ENST00000476679.5:n.265T>C
ENST00000476800.1:n.459T>C
ENST00000479875.1:n.381T>C
ENST00000483674.2:n.61T>C
ENST00000483780.5:n.126T>C
ENST00000601016.5:c.352T>C ENSP00000469981.1:p.Cys118Arg
ENST00000612012.4:c.406T>C ENSP00000482070.1:p.Cys136Arg
ENST00000612460.4:c.352T>C ENSP00000481037.1:p.Cys118Arg
ENST00000613002.4:c.352T>C ENSP00000478154.1:p.Cys118Arg
ENST00000613634.4:n.672T>C
ENST00000615658.4:n.765T>C
ENST00000615986.4:c.*170T>C ENSP00000480133.1:n.*170T>C
ENST00000616020.4:c.406T>C ENSP00000483636.1:p.Cys136Arg
ENST00000617701.4:c.*182T>C ENSP00000481645.1:n.*182T>C
ENST00000620808.4:c.*151T>C ENSP00000479311.1:n.*151T>C
ENST00000621647.1:n.866T>C
NM_000116.4:c.352T>C NP_000107.1:p.Cys118Arg
NM_001303465.1:c.406T>C NP_001290394.1:p.Cys136Arg
NM_181311.3:c.352T>C NP_851828.1:p.Cys118Arg
NM_181312.3:c.352T>C NP_851829.1:p.Cys118Arg
NM_181313.3:c.352T>C NP_851830.1:p.Cys118Arg
NR_024048.2:n.784T>C
XM_006724836.1:c.406T>C XP_006724899.1:p.Cys136Arg
XM_006724837.1:c.406T>C XP_006724900.1:p.Cys136Arg
XM_006724839.1:c.406T>C XP_006724902.1:p.Cys136Arg
XM_006724841.2:c.145T>C XP_006724904.1:p.Cys49Arg
XM_006724842.2:c.145T>C XP_006724905.1:p.Cys49Arg
XM_011531189.1:c.406T>C XP_011529491.1:p.Cys136Arg
XM_011531190.1:c.145T>C XP_011529492.1:p.Cys49Arg
XM_011531191.1:c.76T>C XP_011529493.1:p.Cys26Arg
XM_011531192.1:c.73T>C XP_011529494.1:p.Cys25Arg
XR_938511.1:n.709T>C
XM_006724841.4:c.145T>C XP_006724904.1:p.Cys49Arg
XM_006724842.4:c.145T>C XP_006724905.1:p.Cys49Arg
XM_011531191.2:c.76T>C XP_011529493.1:p.Cys26Arg
XM_017029761.1:c.352T>C XP_016885250.1:p.Cys118Arg
XM_017029762.1:c.406T>C XP_016885251.1:p.Cys136Arg
XM_017029763.1:c.352T>C XP_016885252.1:p.Cys118Arg
XM_017029764.1:c.73T>C XP_016885253.1:p.Cys25Arg
XM_017029765.2:c.145T>C XP_016885254.1:p.Cys49Arg
XM_024452431.1:c.406T>C XP_024308199.1:p.Cys136Arg
NM_000116.5:c.352T>C MANE Select NP_000107.1:p.Cys118Arg
NM_001303465.2:c.406T>C NP_001290394.1:p.Cys136Arg
NM_181311.4:c.352T>C NP_851828.1:p.Cys118Arg
NM_181312.4:c.352T>C NP_851829.1:p.Cys118Arg
NM_181313.4:c.352T>C NP_851830.1:p.Cys118Arg
NR_024048.3:n.763T>C