Canonical Allele Identifier: CA415184419

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648427C>T (hg19) ; chrX:g.154420088C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420088C>T , CM000685.2:g.154420088C>T	GRCh38
NC_000023.10:g.153648427C>T , CM000685.1:g.153648427C>T	GRCh37
NC_000023.9:g.153301621C>T	NCBI36
NG_009634.1:g.13551C>T
NG_009634.2:g.13554C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1450C>T
ENST00000698317.1:n.2066C>T
ENST00000698318.1:n.1849C>T
ENST00000698319.1:n.1212C>T
ENST00000698320.1:n.1100C>T
ENST00000470127.2:n.1113C>T
ENST00000475699.6:c.604C>T	ENSP00000419854.3:p.His202Tyr
ENST00000483674.3:n.522C>T
ENST00000601016.6:c.640C>T MANE Select	ENSP00000469981.1:p.His214Tyr
ENST00000612012.5:c.598C>T	ENSP00000482070.2:p.His200Tyr
ENST00000612460.5:c.550C>T	ENSP00000481037.1:p.His184Tyr
ENST00000614595.2:n.1987C>T
ENST00000615658.5:n.1229C>T
ENST00000616020.5:c.652C>T	ENSP00000483636.2:p.His218Tyr
ENST00000617701.5:c.*653C>T	ENSP00000481645.1:n.*653C>T
ENST00000652354.1:c.322C>T	ENSP00000498734.1:p.His108Tyr
ENST00000652358.1:c.433C>T	ENSP00000498464.1:p.His145Tyr
ENST00000652390.1:c.559C>T	ENSP00000498858.1:p.His187Tyr
ENST00000652476.1:n.1306C>T
ENST00000652644.1:c.253C>T	ENSP00000498496.1:p.His85Tyr
ENST00000652682.1:c.697C>T	ENSP00000498288.1:p.His233Tyr
ENST00000652685.1:n.993C>T
ENST00000369776.8:c.433C>T	ENSP00000358791.4:p.His145Tyr
ENST00000426231.5:c.637C>T
ENST00000439735.2:c.547C>T	ENSP00000398193.1:p.His183Tyr
ENST00000470127.1:n.219C>T
ENST00000475699.5:c.598C>T	ENSP00000419854.2:p.His200Tyr
ENST00000494912.5:n.1329C>T
ENST00000498029.1:n.98C>T
ENST00000601016.5:c.640C>T	ENSP00000469981.1:p.His214Tyr
ENST00000612460.4:c.550C>T	ENSP00000481037.1:p.His184Tyr
ENST00000613002.4:c.508C>T	ENSP00000478154.1:p.His170Tyr
ENST00000615986.4:c.*368C>T	ENSP00000480133.1:n.*368C>T
NM_000116.4:c.640C>T	NP_000107.1:p.His214Tyr
NM_001303465.1:c.652C>T	NP_001290394.1:p.His218Tyr
NM_181311.3:c.550C>T	NP_851828.1:p.His184Tyr
NM_181312.3:c.598C>T	NP_851829.1:p.His200Tyr
NM_181313.3:c.508C>T	NP_851830.1:p.His170Tyr
NR_024048.2:n.982C>T
XM_006724836.1:c.694C>T	XP_006724899.1:p.His232Tyr
XM_006724837.1:c.562C>T	XP_006724900.1:p.His188Tyr
XM_006724839.1:c.562C>T	XP_006724902.1:p.His188Tyr
XM_006724841.2:c.433C>T	XP_006724904.1:p.His145Tyr
XM_006724842.2:c.343C>T	XP_006724905.1:p.His115Tyr
XM_011531189.1:c.481C>T	XP_011529491.1:p.His161Tyr
XM_011531190.1:c.433C>T	XP_011529492.1:p.His145Tyr
XM_011531191.1:c.364C>T	XP_011529493.1:p.His122Tyr
XM_011531192.1:c.361C>T	XP_011529494.1:p.His121Tyr
XR_938511.1:n.988C>T
XM_006724841.4:c.433C>T	XP_006724904.1:p.His145Tyr
XM_006724842.4:c.343C>T	XP_006724905.1:p.His115Tyr
XM_011531191.2:c.364C>T	XP_011529493.1:p.His122Tyr
XM_017029761.1:c.508C>T	XP_016885250.1:p.His170Tyr
XM_017029762.1:c.604C>T	XP_016885251.1:p.His202Tyr
XM_017029763.1:c.427C>T	XP_016885252.1:p.His143Tyr
XM_017029764.1:c.361C>T	XP_016885253.1:p.His121Tyr
XM_017029765.2:c.301C>T	XP_016885254.1:p.His101Tyr
XM_024452431.1:c.481C>T	XP_024308199.1:p.His161Tyr
NM_000116.5:c.640C>T MANE Select	NP_000107.1:p.His214Tyr
NM_001303465.2:c.652C>T	NP_001290394.1:p.His218Tyr
NM_181311.4:c.550C>T	NP_851828.1:p.His184Tyr
NM_181312.4:c.598C>T	NP_851829.1:p.His200Tyr
NM_181313.4:c.508C>T	NP_851830.1:p.His170Tyr
NR_024048.3:n.961C>T