Canonical Allele Identifier: CA415185329

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649001T>A (hg19) ; chrX:g.154420662T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420662T>A , CM000685.2:g.154420662T>A	GRCh38
NC_000023.10:g.153649001T>A , CM000685.1:g.153649001T>A	GRCh37
NC_000023.9:g.153302195T>A	NCBI36
NG_009634.1:g.14125T>A
NG_009634.2:g.14128T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1514T>A
ENST00000698317.1:n.2130T>A
ENST00000698318.1:n.1913T>A
ENST00000698319.1:n.1276T>A
ENST00000698320.1:n.1164T>A
ENST00000470127.2:n.1177T>A
ENST00000475699.6:c.668T>A	ENSP00000419854.3:p.Ile223Asn
ENST00000483674.3:n.586T>A
ENST00000601016.6:c.704T>A MANE Select	ENSP00000469981.1:p.Ile235Asn
ENST00000612012.5:c.662T>A	ENSP00000482070.2:p.Ile221Asn
ENST00000612460.5:c.614T>A	ENSP00000481037.1:p.Ile205Asn
ENST00000614595.2:n.2051T>A
ENST00000615658.5:n.1293T>A
ENST00000616020.5:c.716T>A	ENSP00000483636.2:p.Ile239Asn
ENST00000617701.5:c.*717T>A	ENSP00000481645.1:n.*717T>A
ENST00000651139.1:c.-80T>A	ENSP00000498957.1:n.-80T>A
ENST00000652354.1:c.386T>A	ENSP00000498734.1:p.Ile129Asn
ENST00000652358.1:c.497T>A	ENSP00000498464.1:p.Ile166Asn
ENST00000652390.1:c.623T>A	ENSP00000498858.1:p.Ile208Asn
ENST00000652476.1:n.1370T>A
ENST00000652644.1:c.317T>A	ENSP00000498496.1:p.Ile106Asn
ENST00000652682.1:c.761T>A	ENSP00000498288.1:p.Ile254Asn
ENST00000652685.1:n.1057T>A
ENST00000369776.8:c.614T>A	ENSP00000358791.4:p.Ile205Asn
ENST00000426231.5:c.701T>A
ENST00000475699.5:c.662T>A	ENSP00000419854.2:p.Ile221Asn
ENST00000494912.5:n.1393T>A
ENST00000498029.1:n.162T>A
ENST00000601016.5:c.704T>A	ENSP00000469981.1:p.Ile235Asn
ENST00000612460.4:c.614T>A	ENSP00000481037.1:p.Ile205Asn
ENST00000613002.4:c.572T>A	ENSP00000478154.1:p.Ile191Asn
ENST00000615986.4:c.*432T>A	ENSP00000480133.1:n.*432T>A
NM_000116.4:c.704T>A	NP_000107.1:p.Ile235Asn
NM_001303465.1:c.716T>A	NP_001290394.1:p.Ile239Asn
NM_181311.3:c.614T>A	NP_851828.1:p.Ile205Asn
NM_181312.3:c.662T>A	NP_851829.1:p.Ile221Asn
NM_181313.3:c.572T>A	NP_851830.1:p.Ile191Asn
NR_024048.2:n.1046T>A
XM_006724836.1:c.758T>A	XP_006724899.1:p.Ile253Asn
XM_006724837.1:c.743T>A	XP_006724900.1:p.Ile248Asn
XM_006724839.1:c.626T>A	XP_006724902.1:p.Ile209Asn
XM_006724841.2:c.497T>A	XP_006724904.1:p.Ile166Asn
XM_006724842.2:c.407T>A	XP_006724905.1:p.Ile136Asn
XM_011531189.1:c.545T>A	XP_011529491.1:p.Ile182Asn
XM_011531190.1:c.497T>A	XP_011529492.1:p.Ile166Asn
XM_011531191.1:c.428T>A	XP_011529493.1:p.Ile143Asn
XM_011531192.1:c.425T>A	XP_011529494.1:p.Ile142Asn
XR_938511.1:n.1052T>A
XM_006724841.4:c.497T>A	XP_006724904.1:p.Ile166Asn
XM_006724842.4:c.407T>A	XP_006724905.1:p.Ile136Asn
XM_011531191.2:c.428T>A	XP_011529493.1:p.Ile143Asn
XM_017029761.1:c.689T>A	XP_016885250.1:p.Ile230Asn
XM_017029762.1:c.668T>A	XP_016885251.1:p.Ile223Asn
XM_017029763.1:c.491T>A	XP_016885252.1:p.Ile164Asn
XM_017029764.1:c.425T>A	XP_016885253.1:p.Ile142Asn
XM_017029765.2:c.365T>A	XP_016885254.1:p.Ile122Asn
XM_024452431.1:c.662T>A	XP_024308199.1:p.Ile221Asn
NM_000116.5:c.704T>A MANE Select	NP_000107.1:p.Ile235Asn
NM_001303465.2:c.716T>A	NP_001290394.1:p.Ile239Asn
NM_181311.4:c.614T>A	NP_851828.1:p.Ile205Asn
NM_181312.4:c.662T>A	NP_851829.1:p.Ile221Asn
NM_181313.4:c.572T>A	NP_851830.1:p.Ile191Asn
NR_024048.3:n.1025T>A