Canonical Allele Identifier: CA415185148

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648572A>C (hg19) ; chrX:g.154420233A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420233A>C , CM000685.2:g.154420233A>C	GRCh38
NC_000023.10:g.153648572A>C , CM000685.1:g.153648572A>C	GRCh37
NC_000023.9:g.153301766A>C	NCBI36
NG_009634.1:g.13696A>C
NG_009634.2:g.13699A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1478A>C
ENST00000698317.1:n.2094A>C
ENST00000698318.1:n.1877A>C
ENST00000698319.1:n.1240A>C
ENST00000698320.1:n.1128A>C
ENST00000470127.2:n.1141A>C
ENST00000475699.6:c.632A>C	ENSP00000419854.3:p.Asn211Thr
ENST00000483674.3:n.550A>C
ENST00000601016.6:c.668A>C MANE Select	ENSP00000469981.1:p.Asn223Thr
ENST00000612012.5:c.626A>C	ENSP00000482070.2:p.Asn209Thr
ENST00000612460.5:c.578A>C	ENSP00000481037.1:p.Asn193Thr
ENST00000614595.2:n.2015A>C
ENST00000615658.5:n.1257A>C
ENST00000616020.5:c.680A>C	ENSP00000483636.2:p.Asn227Thr
ENST00000617701.5:c.*681A>C	ENSP00000481645.1:n.*681A>C
ENST00000652354.1:c.350A>C	ENSP00000498734.1:p.Asn117Thr
ENST00000652358.1:c.461A>C	ENSP00000498464.1:p.Asn154Thr
ENST00000652390.1:c.587A>C	ENSP00000498858.1:p.Asn196Thr
ENST00000652476.1:n.1334A>C
ENST00000652644.1:c.281A>C	ENSP00000498496.1:p.Asn94Thr
ENST00000652682.1:c.725A>C	ENSP00000498288.1:p.Asn242Thr
ENST00000652685.1:n.1021A>C
ENST00000369776.8:c.578A>C	ENSP00000358791.4:p.Asn193Thr
ENST00000426231.5:c.665A>C
ENST00000475699.5:c.626A>C	ENSP00000419854.2:p.Asn209Thr
ENST00000494912.5:n.1357A>C
ENST00000498029.1:n.126A>C
ENST00000601016.5:c.668A>C	ENSP00000469981.1:p.Asn223Thr
ENST00000612460.4:c.578A>C	ENSP00000481037.1:p.Asn193Thr
ENST00000613002.4:c.536A>C	ENSP00000478154.1:p.Asn179Thr
ENST00000615986.4:c.*396A>C	ENSP00000480133.1:n.*396A>C
NM_000116.4:c.668A>C	NP_000107.1:p.Asn223Thr
NM_001303465.1:c.680A>C	NP_001290394.1:p.Asn227Thr
NM_181311.3:c.578A>C	NP_851828.1:p.Asn193Thr
NM_181312.3:c.626A>C	NP_851829.1:p.Asn209Thr
NM_181313.3:c.536A>C	NP_851830.1:p.Asn179Thr
NR_024048.2:n.1010A>C
XM_006724836.1:c.722A>C	XP_006724899.1:p.Asn241Thr
XM_006724837.1:c.707A>C	XP_006724900.1:p.Asn236Thr
XM_006724839.1:c.590A>C	XP_006724902.1:p.Asn197Thr
XM_006724841.2:c.461A>C	XP_006724904.1:p.Asn154Thr
XM_006724842.2:c.371A>C	XP_006724905.1:p.Asn124Thr
XM_011531189.1:c.509A>C	XP_011529491.1:p.Asn170Thr
XM_011531190.1:c.461A>C	XP_011529492.1:p.Asn154Thr
XM_011531191.1:c.392A>C	XP_011529493.1:p.Asn131Thr
XM_011531192.1:c.389A>C	XP_011529494.1:p.Asn130Thr
XR_938511.1:n.1016A>C
XM_006724841.4:c.461A>C	XP_006724904.1:p.Asn154Thr
XM_006724842.4:c.371A>C	XP_006724905.1:p.Asn124Thr
XM_011531191.2:c.392A>C	XP_011529493.1:p.Asn131Thr
XM_017029761.1:c.653A>C	XP_016885250.1:p.Asn218Thr
XM_017029762.1:c.632A>C	XP_016885251.1:p.Asn211Thr
XM_017029763.1:c.455A>C	XP_016885252.1:p.Asn152Thr
XM_017029764.1:c.389A>C	XP_016885253.1:p.Asn130Thr
XM_017029765.2:c.329A>C	XP_016885254.1:p.Asn110Thr
XM_024452431.1:c.626A>C	XP_024308199.1:p.Asn209Thr
NM_000116.5:c.668A>C MANE Select	NP_000107.1:p.Asn223Thr
NM_001303465.2:c.680A>C	NP_001290394.1:p.Asn227Thr
NM_181311.4:c.578A>C	NP_851828.1:p.Asn193Thr
NM_181312.4:c.626A>C	NP_851829.1:p.Asn209Thr
NM_181313.4:c.536A>C	NP_851830.1:p.Asn179Thr
NR_024048.3:n.989A>C