Canonical Allele Identifier: CA519278173

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649008G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420669G>T , CM000685.2:g.154420669G>T	GRCh38
NC_000023.10:g.153649008G>T , CM000685.1:g.153649008G>T	GRCh37
NC_000023.9:g.153302202G>T	NCBI36
NG_009634.1:g.14132G>T
NG_009634.2:g.14135G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1521G>T
ENST00000698317.1:n.2137G>T
ENST00000698318.1:n.1920G>T
ENST00000698319.1:n.1283G>T
ENST00000698320.1:n.1171G>T
ENST00000470127.2:n.1184G>T
ENST00000475699.6:c.675G>T	ENSP00000419854.3:p.Val225=
ENST00000483674.3:n.593G>T
ENST00000601016.6:c.711G>T MANE Select	ENSP00000469981.1:p.Val237=
ENST00000612012.5:c.669G>T	ENSP00000482070.2:p.Val223=
ENST00000612460.5:c.621G>T	ENSP00000481037.1:p.Val207=
ENST00000614595.2:n.2058G>T
ENST00000615658.5:n.1300G>T
ENST00000616020.5:c.723G>T	ENSP00000483636.2:p.Val241=
ENST00000617701.5:c.*724G>T	ENSP00000481645.1:n.*724G>T
ENST00000651139.1:c.-73G>T	ENSP00000498957.1:n.-73G>T
ENST00000652354.1:c.393G>T	ENSP00000498734.1:p.Val131=
ENST00000652358.1:c.504G>T	ENSP00000498464.1:p.Val168=
ENST00000652390.1:c.630G>T	ENSP00000498858.1:p.Val210=
ENST00000652476.1:n.1377G>T
ENST00000652644.1:c.324G>T	ENSP00000498496.1:p.Val108=
ENST00000652682.1:c.768G>T	ENSP00000498288.1:p.Val256=
ENST00000652685.1:n.1064G>T
ENST00000369776.8:c.621G>T	ENSP00000358791.4:p.Val207=
ENST00000426231.5:c.708G>T
ENST00000475699.5:c.669G>T	ENSP00000419854.2:p.Val223=
ENST00000494912.5:n.1400G>T
ENST00000498029.1:n.169G>T
ENST00000601016.5:c.711G>T	ENSP00000469981.1:p.Val237=
ENST00000612460.4:c.621G>T	ENSP00000481037.1:p.Val207=
ENST00000613002.4:c.579G>T	ENSP00000478154.1:p.Val193=
ENST00000615986.4:c.*439G>T	ENSP00000480133.1:n.*439G>T
NM_000116.4:c.711G>T	NP_000107.1:p.Val237=
NM_001303465.1:c.723G>T	NP_001290394.1:p.Val241=
NM_181311.3:c.621G>T	NP_851828.1:p.Val207=
NM_181312.3:c.669G>T	NP_851829.1:p.Val223=
NM_181313.3:c.579G>T	NP_851830.1:p.Val193=
NR_024048.2:n.1053G>T
XM_006724836.1:c.765G>T	XP_006724899.1:p.Val255=
XM_006724837.1:c.750G>T	XP_006724900.1:p.Val250=
XM_006724839.1:c.633G>T	XP_006724902.1:p.Val211=
XM_006724841.2:c.504G>T	XP_006724904.1:p.Val168=
XM_006724842.2:c.414G>T	XP_006724905.1:p.Val138=
XM_011531189.1:c.552G>T	XP_011529491.1:p.Val184=
XM_011531190.1:c.504G>T	XP_011529492.1:p.Val168=
XM_011531191.1:c.435G>T	XP_011529493.1:p.Val145=
XM_011531192.1:c.432G>T	XP_011529494.1:p.Val144=
XR_938511.1:n.1059G>T
XM_006724841.4:c.504G>T	XP_006724904.1:p.Val168=
XM_006724842.4:c.414G>T	XP_006724905.1:p.Val138=
XM_011531191.2:c.435G>T	XP_011529493.1:p.Val145=
XM_017029761.1:c.696G>T	XP_016885250.1:p.Val232=
XM_017029762.1:c.675G>T	XP_016885251.1:p.Val225=
XM_017029763.1:c.498G>T	XP_016885252.1:p.Val166=
XM_017029764.1:c.432G>T	XP_016885253.1:p.Val144=
XM_017029765.2:c.372G>T	XP_016885254.1:p.Val124=
XM_024452431.1:c.669G>T	XP_024308199.1:p.Val223=
NM_000116.5:c.711G>T MANE Select	NP_000107.1:p.Val237=
NM_001303465.2:c.723G>T	NP_001290394.1:p.Val241=
NM_181311.4:c.621G>T	NP_851828.1:p.Val207=
NM_181312.4:c.669G>T	NP_851829.1:p.Val223=
NM_181313.4:c.579G>T	NP_851830.1:p.Val193=
NR_024048.3:n.1032G>T