Canonical Allele Identifier: CA519278303

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649071G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420732G>T , CM000685.2:g.154420732G>T	GRCh38
NC_000023.10:g.153649071G>T , CM000685.1:g.153649071G>T	GRCh37
NC_000023.9:g.153302265G>T	NCBI36
NG_009634.1:g.14195G>T
NG_009634.2:g.14198G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1584G>T
ENST00000698317.1:n.2200G>T
ENST00000698318.1:n.1983G>T
ENST00000698319.1:n.1346G>T
ENST00000698320.1:n.1234G>T
ENST00000470127.2:n.1247G>T
ENST00000475699.6:c.738G>T	ENSP00000419854.3:p.Ser246=
ENST00000483674.3:n.656G>T
ENST00000601016.6:c.774G>T MANE Select	ENSP00000469981.1:p.Ser258=
ENST00000612012.5:c.732G>T	ENSP00000482070.2:p.Ser244=
ENST00000612460.5:c.684G>T	ENSP00000481037.1:p.Ser228=
ENST00000614595.2:n.2121G>T
ENST00000615658.5:n.1363G>T
ENST00000616020.5:c.786G>T	ENSP00000483636.2:p.Ser262=
ENST00000617701.5:c.*787G>T	ENSP00000481645.1:n.*787G>T
ENST00000651139.1:c.-10G>T	ENSP00000498957.1:n.-10G>T
ENST00000652354.1:c.456G>T	ENSP00000498734.1:p.Ser152=
ENST00000652358.1:c.567G>T	ENSP00000498464.1:p.Ser189=
ENST00000652390.1:c.693G>T	ENSP00000498858.1:p.Ser231=
ENST00000652476.1:n.1440G>T
ENST00000652644.1:c.387G>T	ENSP00000498496.1:p.Ser129=
ENST00000652682.1:c.831G>T	ENSP00000498288.1:p.Ser277=
ENST00000652685.1:n.1127G>T
ENST00000369776.8:c.684G>T	ENSP00000358791.4:p.Ser228=
ENST00000426231.5:c.771G>T
ENST00000475699.5:c.732G>T	ENSP00000419854.2:p.Ser244=
ENST00000494912.5:n.1463G>T
ENST00000498029.1:n.232G>T
ENST00000601016.5:c.774G>T	ENSP00000469981.1:p.Ser258=
ENST00000612460.4:c.684G>T	ENSP00000481037.1:p.Ser228=
ENST00000613002.4:c.642G>T	ENSP00000478154.1:p.Ser214=
ENST00000615986.4:c.*502G>T	ENSP00000480133.1:n.*502G>T
NM_000116.4:c.774G>T	NP_000107.1:p.Ser258=
NM_001303465.1:c.786G>T	NP_001290394.1:p.Ser262=
NM_181311.3:c.684G>T	NP_851828.1:p.Ser228=
NM_181312.3:c.732G>T	NP_851829.1:p.Ser244=
NM_181313.3:c.642G>T	NP_851830.1:p.Ser214=
NR_024048.2:n.1116G>T
XM_006724836.1:c.828G>T	XP_006724899.1:p.Ser276=
XM_006724837.1:c.813G>T	XP_006724900.1:p.Ser271=
XM_006724839.1:c.696G>T	XP_006724902.1:p.Ser232=
XM_006724841.2:c.567G>T	XP_006724904.1:p.Ser189=
XM_006724842.2:c.477G>T	XP_006724905.1:p.Ser159=
XM_011531189.1:c.615G>T	XP_011529491.1:p.Ser205=
XM_011531190.1:c.567G>T	XP_011529492.1:p.Ser189=
XM_011531191.1:c.498G>T	XP_011529493.1:p.Ser166=
XM_011531192.1:c.495G>T	XP_011529494.1:p.Ser165=
XR_938511.1:n.1122G>T
XM_006724841.4:c.567G>T	XP_006724904.1:p.Ser189=
XM_006724842.4:c.477G>T	XP_006724905.1:p.Ser159=
XM_011531191.2:c.498G>T	XP_011529493.1:p.Ser166=
XM_017029761.1:c.759G>T	XP_016885250.1:p.Ser253=
XM_017029762.1:c.738G>T	XP_016885251.1:p.Ser246=
XM_017029763.1:c.561G>T	XP_016885252.1:p.Ser187=
XM_017029764.1:c.495G>T	XP_016885253.1:p.Ser165=
XM_017029765.2:c.435G>T	XP_016885254.1:p.Ser145=
XM_024452431.1:c.732G>T	XP_024308199.1:p.Ser244=
NM_000116.5:c.774G>T MANE Select	NP_000107.1:p.Ser258=
NM_001303465.2:c.786G>T	NP_001290394.1:p.Ser262=
NM_181311.4:c.684G>T	NP_851828.1:p.Ser228=
NM_181312.4:c.732G>T	NP_851829.1:p.Ser244=
NM_181313.4:c.642G>T	NP_851830.1:p.Ser214=
NR_024048.3:n.1095G>T