Canonical Allele Identifier: CA519278277

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649048C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420709C>A , CM000685.2:g.154420709C>A	GRCh38
NC_000023.10:g.153649048C>A , CM000685.1:g.153649048C>A	GRCh37
NC_000023.9:g.153302242C>A	NCBI36
NG_009634.1:g.14172C>A
NG_009634.2:g.14175C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1561C>A
ENST00000698317.1:n.2177C>A
ENST00000698318.1:n.1960C>A
ENST00000698319.1:n.1323C>A
ENST00000698320.1:n.1211C>A
ENST00000470127.2:n.1224C>A
ENST00000475699.6:c.715C>A	ENSP00000419854.3:p.Arg239=
ENST00000483674.3:n.633C>A
ENST00000601016.6:c.751C>A MANE Select	ENSP00000469981.1:p.Arg251=
ENST00000612012.5:c.709C>A	ENSP00000482070.2:p.Arg237=
ENST00000612460.5:c.661C>A	ENSP00000481037.1:p.Arg221=
ENST00000614595.2:n.2098C>A
ENST00000615658.5:n.1340C>A
ENST00000616020.5:c.763C>A	ENSP00000483636.2:p.Arg255=
ENST00000617701.5:c.*764C>A	ENSP00000481645.1:n.*764C>A
ENST00000651139.1:c.-33C>A	ENSP00000498957.1:n.-33C>A
ENST00000652354.1:c.433C>A	ENSP00000498734.1:p.Arg145=
ENST00000652358.1:c.544C>A	ENSP00000498464.1:p.Arg182=
ENST00000652390.1:c.670C>A	ENSP00000498858.1:p.Arg224=
ENST00000652476.1:n.1417C>A
ENST00000652644.1:c.364C>A	ENSP00000498496.1:p.Arg122=
ENST00000652682.1:c.808C>A	ENSP00000498288.1:p.Arg270=
ENST00000652685.1:n.1104C>A
ENST00000369776.8:c.661C>A	ENSP00000358791.4:p.Arg221=
ENST00000426231.5:c.748C>A
ENST00000475699.5:c.709C>A	ENSP00000419854.2:p.Arg237=
ENST00000494912.5:n.1440C>A
ENST00000498029.1:n.209C>A
ENST00000601016.5:c.751C>A	ENSP00000469981.1:p.Arg251=
ENST00000612460.4:c.661C>A	ENSP00000481037.1:p.Arg221=
ENST00000613002.4:c.619C>A	ENSP00000478154.1:p.Arg207=
ENST00000615986.4:c.*479C>A	ENSP00000480133.1:n.*479C>A
NM_000116.4:c.751C>A	NP_000107.1:p.Arg251=
NM_001303465.1:c.763C>A	NP_001290394.1:p.Arg255=
NM_181311.3:c.661C>A	NP_851828.1:p.Arg221=
NM_181312.3:c.709C>A	NP_851829.1:p.Arg237=
NM_181313.3:c.619C>A	NP_851830.1:p.Arg207=
NR_024048.2:n.1093C>A
XM_006724836.1:c.805C>A	XP_006724899.1:p.Arg269=
XM_006724837.1:c.790C>A	XP_006724900.1:p.Arg264=
XM_006724839.1:c.673C>A	XP_006724902.1:p.Arg225=
XM_006724841.2:c.544C>A	XP_006724904.1:p.Arg182=
XM_006724842.2:c.454C>A	XP_006724905.1:p.Arg152=
XM_011531189.1:c.592C>A	XP_011529491.1:p.Arg198=
XM_011531190.1:c.544C>A	XP_011529492.1:p.Arg182=
XM_011531191.1:c.475C>A	XP_011529493.1:p.Arg159=
XM_011531192.1:c.472C>A	XP_011529494.1:p.Arg158=
XR_938511.1:n.1099C>A
XM_006724841.4:c.544C>A	XP_006724904.1:p.Arg182=
XM_006724842.4:c.454C>A	XP_006724905.1:p.Arg152=
XM_011531191.2:c.475C>A	XP_011529493.1:p.Arg159=
XM_017029761.1:c.736C>A	XP_016885250.1:p.Arg246=
XM_017029762.1:c.715C>A	XP_016885251.1:p.Arg239=
XM_017029763.1:c.538C>A	XP_016885252.1:p.Arg180=
XM_017029764.1:c.472C>A	XP_016885253.1:p.Arg158=
XM_017029765.2:c.412C>A	XP_016885254.1:p.Arg138=
XM_024452431.1:c.709C>A	XP_024308199.1:p.Arg237=
NM_000116.5:c.751C>A MANE Select	NP_000107.1:p.Arg251=
NM_001303465.2:c.763C>A	NP_001290394.1:p.Arg255=
NM_181311.4:c.661C>A	NP_851828.1:p.Arg221=
NM_181312.4:c.709C>A	NP_851829.1:p.Arg237=
NM_181313.4:c.619C>A	NP_851830.1:p.Arg207=
NR_024048.3:n.1072C>A