Canonical Allele Identifier: CA415185466

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649052T>C (hg19) ; chrX:g.154420713T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420713T>C , CM000685.2:g.154420713T>C	GRCh38
NC_000023.10:g.153649052T>C , CM000685.1:g.153649052T>C	GRCh37
NC_000023.9:g.153302246T>C	NCBI36
NG_009634.1:g.14176T>C
NG_009634.2:g.14179T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1565T>C
ENST00000698317.1:n.2181T>C
ENST00000698318.1:n.1964T>C
ENST00000698319.1:n.1327T>C
ENST00000698320.1:n.1215T>C
ENST00000470127.2:n.1228T>C
ENST00000475699.6:c.719T>C	ENSP00000419854.3:p.Leu240Pro
ENST00000483674.3:n.637T>C
ENST00000601016.6:c.755T>C MANE Select	ENSP00000469981.1:p.Leu252Pro
ENST00000612012.5:c.713T>C	ENSP00000482070.2:p.Leu238Pro
ENST00000612460.5:c.665T>C	ENSP00000481037.1:p.Leu222Pro
ENST00000614595.2:n.2102T>C
ENST00000615658.5:n.1344T>C
ENST00000616020.5:c.767T>C	ENSP00000483636.2:p.Leu256Pro
ENST00000617701.5:c.*768T>C	ENSP00000481645.1:n.*768T>C
ENST00000651139.1:c.-29T>C	ENSP00000498957.1:n.-29T>C
ENST00000652354.1:c.437T>C	ENSP00000498734.1:p.Leu146Pro
ENST00000652358.1:c.548T>C	ENSP00000498464.1:p.Leu183Pro
ENST00000652390.1:c.674T>C	ENSP00000498858.1:p.Leu225Pro
ENST00000652476.1:n.1421T>C
ENST00000652644.1:c.368T>C	ENSP00000498496.1:p.Leu123Pro
ENST00000652682.1:c.812T>C	ENSP00000498288.1:p.Leu271Pro
ENST00000652685.1:n.1108T>C
ENST00000369776.8:c.665T>C	ENSP00000358791.4:p.Leu222Pro
ENST00000426231.5:c.752T>C
ENST00000475699.5:c.713T>C	ENSP00000419854.2:p.Leu238Pro
ENST00000494912.5:n.1444T>C
ENST00000498029.1:n.213T>C
ENST00000601016.5:c.755T>C	ENSP00000469981.1:p.Leu252Pro
ENST00000612460.4:c.665T>C	ENSP00000481037.1:p.Leu222Pro
ENST00000613002.4:c.623T>C	ENSP00000478154.1:p.Leu208Pro
ENST00000615986.4:c.*483T>C	ENSP00000480133.1:n.*483T>C
NM_000116.4:c.755T>C	NP_000107.1:p.Leu252Pro
NM_001303465.1:c.767T>C	NP_001290394.1:p.Leu256Pro
NM_181311.3:c.665T>C	NP_851828.1:p.Leu222Pro
NM_181312.3:c.713T>C	NP_851829.1:p.Leu238Pro
NM_181313.3:c.623T>C	NP_851830.1:p.Leu208Pro
NR_024048.2:n.1097T>C
XM_006724836.1:c.809T>C	XP_006724899.1:p.Leu270Pro
XM_006724837.1:c.794T>C	XP_006724900.1:p.Leu265Pro
XM_006724839.1:c.677T>C	XP_006724902.1:p.Leu226Pro
XM_006724841.2:c.548T>C	XP_006724904.1:p.Leu183Pro
XM_006724842.2:c.458T>C	XP_006724905.1:p.Leu153Pro
XM_011531189.1:c.596T>C	XP_011529491.1:p.Leu199Pro
XM_011531190.1:c.548T>C	XP_011529492.1:p.Leu183Pro
XM_011531191.1:c.479T>C	XP_011529493.1:p.Leu160Pro
XM_011531192.1:c.476T>C	XP_011529494.1:p.Leu159Pro
XR_938511.1:n.1103T>C
XM_006724841.4:c.548T>C	XP_006724904.1:p.Leu183Pro
XM_006724842.4:c.458T>C	XP_006724905.1:p.Leu153Pro
XM_011531191.2:c.479T>C	XP_011529493.1:p.Leu160Pro
XM_017029761.1:c.740T>C	XP_016885250.1:p.Leu247Pro
XM_017029762.1:c.719T>C	XP_016885251.1:p.Leu240Pro
XM_017029763.1:c.542T>C	XP_016885252.1:p.Leu181Pro
XM_017029764.1:c.476T>C	XP_016885253.1:p.Leu159Pro
XM_017029765.2:c.416T>C	XP_016885254.1:p.Leu139Pro
XM_024452431.1:c.713T>C	XP_024308199.1:p.Leu238Pro
NM_000116.5:c.755T>C MANE Select	NP_000107.1:p.Leu252Pro
NM_001303465.2:c.767T>C	NP_001290394.1:p.Leu256Pro
NM_181311.4:c.665T>C	NP_851828.1:p.Leu222Pro
NM_181312.4:c.713T>C	NP_851829.1:p.Leu238Pro
NM_181313.4:c.623T>C	NP_851830.1:p.Leu208Pro
NR_024048.3:n.1076T>C