Canonical Allele Identifier: CA519278139

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648576T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420237T>C , CM000685.2:g.154420237T>C	GRCh38
NC_000023.10:g.153648576T>C , CM000685.1:g.153648576T>C	GRCh37
NC_000023.9:g.153301770T>C	NCBI36
NG_009634.1:g.13700T>C
NG_009634.2:g.13703T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1482T>C
ENST00000698317.1:n.2098T>C
ENST00000698318.1:n.1881T>C
ENST00000698319.1:n.1244T>C
ENST00000698320.1:n.1132T>C
ENST00000470127.2:n.1145T>C
ENST00000475699.6:c.636T>C	ENSP00000419854.3:p.Ser212=
ENST00000483674.3:n.554T>C
ENST00000601016.6:c.672T>C MANE Select	ENSP00000469981.1:p.Ser224=
ENST00000612012.5:c.630T>C	ENSP00000482070.2:p.Ser210=
ENST00000612460.5:c.582T>C	ENSP00000481037.1:p.Ser194=
ENST00000614595.2:n.2019T>C
ENST00000615658.5:n.1261T>C
ENST00000616020.5:c.684T>C	ENSP00000483636.2:p.Ser228=
ENST00000617701.5:c.*685T>C	ENSP00000481645.1:n.*685T>C
ENST00000652354.1:c.354T>C	ENSP00000498734.1:p.Ser118=
ENST00000652358.1:c.465T>C	ENSP00000498464.1:p.Ser155=
ENST00000652390.1:c.591T>C	ENSP00000498858.1:p.Ser197=
ENST00000652476.1:n.1338T>C
ENST00000652644.1:c.285T>C	ENSP00000498496.1:p.Ser95=
ENST00000652682.1:c.729T>C	ENSP00000498288.1:p.Ser243=
ENST00000652685.1:n.1025T>C
ENST00000369776.8:c.582T>C	ENSP00000358791.4:p.Ser194=
ENST00000426231.5:c.669T>C
ENST00000475699.5:c.630T>C	ENSP00000419854.2:p.Ser210=
ENST00000494912.5:n.1361T>C
ENST00000498029.1:n.130T>C
ENST00000601016.5:c.672T>C	ENSP00000469981.1:p.Ser224=
ENST00000612460.4:c.582T>C	ENSP00000481037.1:p.Ser194=
ENST00000613002.4:c.540T>C	ENSP00000478154.1:p.Ser180=
ENST00000615986.4:c.*400T>C	ENSP00000480133.1:n.*400T>C
NM_000116.4:c.672T>C	NP_000107.1:p.Ser224=
NM_001303465.1:c.684T>C	NP_001290394.1:p.Ser228=
NM_181311.3:c.582T>C	NP_851828.1:p.Ser194=
NM_181312.3:c.630T>C	NP_851829.1:p.Ser210=
NM_181313.3:c.540T>C	NP_851830.1:p.Ser180=
NR_024048.2:n.1014T>C
XM_006724836.1:c.726T>C	XP_006724899.1:p.Ser242=
XM_006724837.1:c.711T>C	XP_006724900.1:p.Ser237=
XM_006724839.1:c.594T>C	XP_006724902.1:p.Ser198=
XM_006724841.2:c.465T>C	XP_006724904.1:p.Ser155=
XM_006724842.2:c.375T>C	XP_006724905.1:p.Ser125=
XM_011531189.1:c.513T>C	XP_011529491.1:p.Ser171=
XM_011531190.1:c.465T>C	XP_011529492.1:p.Ser155=
XM_011531191.1:c.396T>C	XP_011529493.1:p.Ser132=
XM_011531192.1:c.393T>C	XP_011529494.1:p.Ser131=
XR_938511.1:n.1020T>C
XM_006724841.4:c.465T>C	XP_006724904.1:p.Ser155=
XM_006724842.4:c.375T>C	XP_006724905.1:p.Ser125=
XM_011531191.2:c.396T>C	XP_011529493.1:p.Ser132=
XM_017029761.1:c.657T>C	XP_016885250.1:p.Ser219=
XM_017029762.1:c.636T>C	XP_016885251.1:p.Ser212=
XM_017029763.1:c.459T>C	XP_016885252.1:p.Ser153=
XM_017029764.1:c.393T>C	XP_016885253.1:p.Ser131=
XM_017029765.2:c.333T>C	XP_016885254.1:p.Ser111=
XM_024452431.1:c.630T>C	XP_024308199.1:p.Ser210=
NM_000116.5:c.672T>C MANE Select	NP_000107.1:p.Ser224=
NM_001303465.2:c.684T>C	NP_001290394.1:p.Ser228=
NM_181311.4:c.582T>C	NP_851828.1:p.Ser194=
NM_181312.4:c.630T>C	NP_851829.1:p.Ser210=
NM_181313.4:c.540T>C	NP_851830.1:p.Ser180=
NR_024048.3:n.993T>C