Canonical Allele Identifier: CA519278263

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649033C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420694C>T , CM000685.2:g.154420694C>T	GRCh38
NC_000023.10:g.153649033C>T , CM000685.1:g.153649033C>T	GRCh37
NC_000023.9:g.153302227C>T	NCBI36
NG_009634.1:g.14157C>T
NG_009634.2:g.14160C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1546C>T
ENST00000698317.1:n.2162C>T
ENST00000698318.1:n.1945C>T
ENST00000698319.1:n.1308C>T
ENST00000698320.1:n.1196C>T
ENST00000470127.2:n.1209C>T
ENST00000475699.6:c.700C>T	ENSP00000419854.3:p.Leu234=
ENST00000483674.3:n.618C>T
ENST00000601016.6:c.736C>T MANE Select	ENSP00000469981.1:p.Leu246=
ENST00000612012.5:c.694C>T	ENSP00000482070.2:p.Leu232=
ENST00000612460.5:c.646C>T	ENSP00000481037.1:p.Leu216=
ENST00000614595.2:n.2083C>T
ENST00000615658.5:n.1325C>T
ENST00000616020.5:c.748C>T	ENSP00000483636.2:p.Leu250=
ENST00000617701.5:c.*749C>T	ENSP00000481645.1:n.*749C>T
ENST00000651139.1:c.-48C>T	ENSP00000498957.1:n.-48C>T
ENST00000652354.1:c.418C>T	ENSP00000498734.1:p.Leu140=
ENST00000652358.1:c.529C>T	ENSP00000498464.1:p.Leu177=
ENST00000652390.1:c.655C>T	ENSP00000498858.1:p.Leu219=
ENST00000652476.1:n.1402C>T
ENST00000652644.1:c.349C>T	ENSP00000498496.1:p.Leu117=
ENST00000652682.1:c.793C>T	ENSP00000498288.1:p.Leu265=
ENST00000652685.1:n.1089C>T
ENST00000369776.8:c.646C>T	ENSP00000358791.4:p.Leu216=
ENST00000426231.5:c.733C>T
ENST00000475699.5:c.694C>T	ENSP00000419854.2:p.Leu232=
ENST00000494912.5:n.1425C>T
ENST00000498029.1:n.194C>T
ENST00000601016.5:c.736C>T	ENSP00000469981.1:p.Leu246=
ENST00000612460.4:c.646C>T	ENSP00000481037.1:p.Leu216=
ENST00000613002.4:c.604C>T	ENSP00000478154.1:p.Leu202=
ENST00000615986.4:c.*464C>T	ENSP00000480133.1:n.*464C>T
NM_000116.4:c.736C>T	NP_000107.1:p.Leu246=
NM_001303465.1:c.748C>T	NP_001290394.1:p.Leu250=
NM_181311.3:c.646C>T	NP_851828.1:p.Leu216=
NM_181312.3:c.694C>T	NP_851829.1:p.Leu232=
NM_181313.3:c.604C>T	NP_851830.1:p.Leu202=
NR_024048.2:n.1078C>T
XM_006724836.1:c.790C>T	XP_006724899.1:p.Leu264=
XM_006724837.1:c.775C>T	XP_006724900.1:p.Leu259=
XM_006724839.1:c.658C>T	XP_006724902.1:p.Leu220=
XM_006724841.2:c.529C>T	XP_006724904.1:p.Leu177=
XM_006724842.2:c.439C>T	XP_006724905.1:p.Leu147=
XM_011531189.1:c.577C>T	XP_011529491.1:p.Leu193=
XM_011531190.1:c.529C>T	XP_011529492.1:p.Leu177=
XM_011531191.1:c.460C>T	XP_011529493.1:p.Leu154=
XM_011531192.1:c.457C>T	XP_011529494.1:p.Leu153=
XR_938511.1:n.1084C>T
XM_006724841.4:c.529C>T	XP_006724904.1:p.Leu177=
XM_006724842.4:c.439C>T	XP_006724905.1:p.Leu147=
XM_011531191.2:c.460C>T	XP_011529493.1:p.Leu154=
XM_017029761.1:c.721C>T	XP_016885250.1:p.Leu241=
XM_017029762.1:c.700C>T	XP_016885251.1:p.Leu234=
XM_017029763.1:c.523C>T	XP_016885252.1:p.Leu175=
XM_017029764.1:c.457C>T	XP_016885253.1:p.Leu153=
XM_017029765.2:c.397C>T	XP_016885254.1:p.Leu133=
XM_024452431.1:c.694C>T	XP_024308199.1:p.Leu232=
NM_000116.5:c.736C>T MANE Select	NP_000107.1:p.Leu246=
NM_001303465.2:c.748C>T	NP_001290394.1:p.Leu250=
NM_181311.4:c.646C>T	NP_851828.1:p.Leu216=
NM_181312.4:c.694C>T	NP_851829.1:p.Leu232=
NM_181313.4:c.604C>T	NP_851830.1:p.Leu202=
NR_024048.3:n.1057C>T