Canonical Allele Identifier: CA519277501
Gene: TAFAZZIN HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.153641587T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154413250T>G , CM000685.2:g.154413250T>G GRCh38
NC_000023.10:g.153641587T>G , CM000685.1:g.153641587T>G GRCh37
NC_000023.9:g.153294781T>G NCBI36
NG_009634.1:g.6711T>G
NG_012884.2:g.3839A>C
NG_009634.2:g.6716T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000698234.1:n.710T>G
ENST00000698235.1:n.269T>G
ENST00000698317.1:n.1236T>G
ENST00000698318.1:n.1097T>G
ENST00000470127.2:n.331T>G
ENST00000475699.6:c.336T>G ENSP00000419854.3:p.Arg112=
ENST00000476800.2:n.1239T>G
ENST00000483674.3:n.173T>G
ENST00000601016.6:c.282T>G MANE Select ENSP00000469981.1:p.Arg94=
ENST00000612012.5:c.282T>G ENSP00000482070.2:p.Arg94=
ENST00000612460.5:c.282T>G ENSP00000481037.1:p.Arg94=
ENST00000614595.2:n.1632T>G
ENST00000615658.5:n.595T>G
ENST00000616020.5:c.336T>G ENSP00000483636.2:p.Arg112=
ENST00000617701.5:c.282T>G ENSP00000481645.1:p.Arg94=
ENST00000621647.2:n.335T>G
ENST00000652354.1:c.6T>G ENSP00000498734.1:p.Arg2=
ENST00000652358.1:c.-13T>G ENSP00000498464.1:n.-13T>G
ENST00000652390.1:c.201T>G ENSP00000498858.1:p.Arg67=
ENST00000652476.1:n.443T>G
ENST00000652682.1:c.282T>G ENSP00000498288.1:p.Arg94=
ENST00000652685.1:n.334T>G
ENST00000369776.8:c.207T>G ENSP00000358791.4:p.Arg69=
ENST00000426231.5:c.98T>G
ENST00000439735.2:c.282T>G ENSP00000398193.1:p.Arg94=
ENST00000475699.5:c.282T>G ENSP00000419854.2:p.Arg94=
ENST00000476679.5:n.195T>G
ENST00000476800.1:n.160T>G
ENST00000479875.1:n.311T>G
ENST00000483780.5:n.56T>G
ENST00000601016.5:c.282T>G ENSP00000469981.1:p.Arg94=
ENST00000612012.4:c.336T>G ENSP00000482070.1:p.Arg112=
ENST00000612460.4:c.282T>G ENSP00000481037.1:p.Arg94=
ENST00000613002.4:c.282T>G ENSP00000478154.1:p.Arg94=
ENST00000613634.4:n.602T>G
ENST00000615658.4:n.608T>G
ENST00000615986.4:c.282T>G ENSP00000480133.1:p.Arg94=
ENST00000616020.4:c.336T>G ENSP00000483636.1:p.Arg112=
ENST00000617701.4:c.282T>G ENSP00000481645.1:p.Arg94=
ENST00000620808.4:c.282T>G ENSP00000479311.1:p.Arg94=
ENST00000621647.1:n.567T>G
NM_000116.4:c.282T>G NP_000107.1:p.Arg94=
NM_001303465.1:c.336T>G NP_001290394.1:p.Arg112=
NM_181311.3:c.282T>G NP_851828.1:p.Arg94=
NM_181312.3:c.282T>G NP_851829.1:p.Arg94=
NM_181313.3:c.282T>G NP_851830.1:p.Arg94=
NR_024048.2:n.608T>G
XM_006724836.1:c.336T>G XP_006724899.1:p.Arg112=
XM_006724837.1:c.336T>G XP_006724900.1:p.Arg112=
XM_006724839.1:c.336T>G XP_006724902.1:p.Arg112=
XM_006724841.2:c.-13T>G XP_006724904.1:n.-13T>G
XM_006724842.2:c.-13T>G XP_006724905.1:n.-13T>G
XM_011531189.1:c.336T>G XP_011529491.1:p.Arg112=
XM_011531190.1:c.-13T>G XP_011529492.1:n.-13T>G
XM_011531191.1:c.6T>G XP_011529493.1:p.Arg2=
XM_011531192.1:c.-116T>G XP_011529494.1:n.-116T>G
XR_938511.1:n.639T>G
XM_006724841.4:c.-13T>G XP_006724904.1:n.-13T>G
XM_006724842.4:c.-13T>G XP_006724905.1:n.-13T>G
XM_011531191.2:c.6T>G XP_011529493.1:p.Arg2=
XM_017029761.1:c.282T>G XP_016885250.1:p.Arg94=
XM_017029762.1:c.336T>G XP_016885251.1:p.Arg112=
XM_017029763.1:c.282T>G XP_016885252.1:p.Arg94=
XM_017029764.1:c.-116T>G XP_016885253.1:n.-116T>G
XM_017029765.2:c.-13T>G XP_016885254.1:n.-13T>G
XM_024452431.1:c.336T>G XP_024308199.1:p.Arg112=
NM_000116.5:c.282T>G MANE Select NP_000107.1:p.Arg94=
NM_001303465.2:c.336T>G NP_001290394.1:p.Arg112=
NM_181311.4:c.282T>G NP_851828.1:p.Arg94=
NM_181312.4:c.282T>G NP_851829.1:p.Arg94=
NM_181313.4:c.282T>G NP_851830.1:p.Arg94=
NR_024048.3:n.587T>G