Canonical Allele Identifier: CA415185441

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649043T>C (hg19) ; chrX:g.154420704T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420704T>C , CM000685.2:g.154420704T>C	GRCh38
NC_000023.10:g.153649043T>C , CM000685.1:g.153649043T>C	GRCh37
NC_000023.9:g.153302237T>C	NCBI36
NG_009634.1:g.14167T>C
NG_009634.2:g.14170T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1556T>C
ENST00000698317.1:n.2172T>C
ENST00000698318.1:n.1955T>C
ENST00000698319.1:n.1318T>C
ENST00000698320.1:n.1206T>C
ENST00000470127.2:n.1219T>C
ENST00000475699.6:c.710T>C	ENSP00000419854.3:p.Leu237Pro
ENST00000483674.3:n.628T>C
ENST00000601016.6:c.746T>C MANE Select	ENSP00000469981.1:p.Leu249Pro
ENST00000612012.5:c.704T>C	ENSP00000482070.2:p.Leu235Pro
ENST00000612460.5:c.656T>C	ENSP00000481037.1:p.Leu219Pro
ENST00000614595.2:n.2093T>C
ENST00000615658.5:n.1335T>C
ENST00000616020.5:c.758T>C	ENSP00000483636.2:p.Leu253Pro
ENST00000617701.5:c.*759T>C	ENSP00000481645.1:n.*759T>C
ENST00000651139.1:c.-38T>C	ENSP00000498957.1:n.-38T>C
ENST00000652354.1:c.428T>C	ENSP00000498734.1:p.Leu143Pro
ENST00000652358.1:c.539T>C	ENSP00000498464.1:p.Leu180Pro
ENST00000652390.1:c.665T>C	ENSP00000498858.1:p.Leu222Pro
ENST00000652476.1:n.1412T>C
ENST00000652644.1:c.359T>C	ENSP00000498496.1:p.Leu120Pro
ENST00000652682.1:c.803T>C	ENSP00000498288.1:p.Leu268Pro
ENST00000652685.1:n.1099T>C
ENST00000369776.8:c.656T>C	ENSP00000358791.4:p.Leu219Pro
ENST00000426231.5:c.743T>C
ENST00000475699.5:c.704T>C	ENSP00000419854.2:p.Leu235Pro
ENST00000494912.5:n.1435T>C
ENST00000498029.1:n.204T>C
ENST00000601016.5:c.746T>C	ENSP00000469981.1:p.Leu249Pro
ENST00000612460.4:c.656T>C	ENSP00000481037.1:p.Leu219Pro
ENST00000613002.4:c.614T>C	ENSP00000478154.1:p.Leu205Pro
ENST00000615986.4:c.*474T>C	ENSP00000480133.1:n.*474T>C
NM_000116.4:c.746T>C	NP_000107.1:p.Leu249Pro
NM_001303465.1:c.758T>C	NP_001290394.1:p.Leu253Pro
NM_181311.3:c.656T>C	NP_851828.1:p.Leu219Pro
NM_181312.3:c.704T>C	NP_851829.1:p.Leu235Pro
NM_181313.3:c.614T>C	NP_851830.1:p.Leu205Pro
NR_024048.2:n.1088T>C
XM_006724836.1:c.800T>C	XP_006724899.1:p.Leu267Pro
XM_006724837.1:c.785T>C	XP_006724900.1:p.Leu262Pro
XM_006724839.1:c.668T>C	XP_006724902.1:p.Leu223Pro
XM_006724841.2:c.539T>C	XP_006724904.1:p.Leu180Pro
XM_006724842.2:c.449T>C	XP_006724905.1:p.Leu150Pro
XM_011531189.1:c.587T>C	XP_011529491.1:p.Leu196Pro
XM_011531190.1:c.539T>C	XP_011529492.1:p.Leu180Pro
XM_011531191.1:c.470T>C	XP_011529493.1:p.Leu157Pro
XM_011531192.1:c.467T>C	XP_011529494.1:p.Leu156Pro
XR_938511.1:n.1094T>C
XM_006724841.4:c.539T>C	XP_006724904.1:p.Leu180Pro
XM_006724842.4:c.449T>C	XP_006724905.1:p.Leu150Pro
XM_011531191.2:c.470T>C	XP_011529493.1:p.Leu157Pro
XM_017029761.1:c.731T>C	XP_016885250.1:p.Leu244Pro
XM_017029762.1:c.710T>C	XP_016885251.1:p.Leu237Pro
XM_017029763.1:c.533T>C	XP_016885252.1:p.Leu178Pro
XM_017029764.1:c.467T>C	XP_016885253.1:p.Leu156Pro
XM_017029765.2:c.407T>C	XP_016885254.1:p.Leu136Pro
XM_024452431.1:c.704T>C	XP_024308199.1:p.Leu235Pro
NM_000116.5:c.746T>C MANE Select	NP_000107.1:p.Leu249Pro
NM_001303465.2:c.758T>C	NP_001290394.1:p.Leu253Pro
NM_181311.4:c.656T>C	NP_851828.1:p.Leu219Pro
NM_181312.4:c.704T>C	NP_851829.1:p.Leu235Pro
NM_181313.4:c.614T>C	NP_851830.1:p.Leu205Pro
NR_024048.3:n.1067T>C