Canonical Allele Identifier: CA519278259

Gene: TAFAZZIN

Linked Data

• gnomAD v4: X-154420690-T-C
• MyVariant Identifiers: chrX:g.153649029T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420690T>C , CM000685.2:g.154420690T>C	GRCh38
NC_000023.10:g.153649029T>C , CM000685.1:g.153649029T>C	GRCh37
NC_000023.9:g.153302223T>C	NCBI36
NG_009634.1:g.14153T>C
NG_009634.2:g.14156T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1542T>C
ENST00000698317.1:n.2158T>C
ENST00000698318.1:n.1941T>C
ENST00000698319.1:n.1304T>C
ENST00000698320.1:n.1192T>C
ENST00000470127.2:n.1205T>C
ENST00000475699.6:c.696T>C	ENSP00000419854.3:p.Ser232=
ENST00000483674.3:n.614T>C
ENST00000601016.6:c.732T>C MANE Select	ENSP00000469981.1:p.Ser244=
ENST00000612012.5:c.690T>C	ENSP00000482070.2:p.Ser230=
ENST00000612460.5:c.642T>C	ENSP00000481037.1:p.Ser214=
ENST00000614595.2:n.2079T>C
ENST00000615658.5:n.1321T>C
ENST00000616020.5:c.744T>C	ENSP00000483636.2:p.Ser248=
ENST00000617701.5:c.*745T>C	ENSP00000481645.1:n.*745T>C
ENST00000651139.1:c.-52T>C	ENSP00000498957.1:n.-52T>C
ENST00000652354.1:c.414T>C	ENSP00000498734.1:p.Ser138=
ENST00000652358.1:c.525T>C	ENSP00000498464.1:p.Ser175=
ENST00000652390.1:c.651T>C	ENSP00000498858.1:p.Ser217=
ENST00000652476.1:n.1398T>C
ENST00000652644.1:c.345T>C	ENSP00000498496.1:p.Ser115=
ENST00000652682.1:c.789T>C	ENSP00000498288.1:p.Ser263=
ENST00000652685.1:n.1085T>C
ENST00000369776.8:c.642T>C	ENSP00000358791.4:p.Ser214=
ENST00000426231.5:c.729T>C
ENST00000475699.5:c.690T>C	ENSP00000419854.2:p.Ser230=
ENST00000494912.5:n.1421T>C
ENST00000498029.1:n.190T>C
ENST00000601016.5:c.732T>C	ENSP00000469981.1:p.Ser244=
ENST00000612460.4:c.642T>C	ENSP00000481037.1:p.Ser214=
ENST00000613002.4:c.600T>C	ENSP00000478154.1:p.Ser200=
ENST00000615986.4:c.*460T>C	ENSP00000480133.1:n.*460T>C
NM_000116.4:c.732T>C	NP_000107.1:p.Ser244=
NM_001303465.1:c.744T>C	NP_001290394.1:p.Ser248=
NM_181311.3:c.642T>C	NP_851828.1:p.Ser214=
NM_181312.3:c.690T>C	NP_851829.1:p.Ser230=
NM_181313.3:c.600T>C	NP_851830.1:p.Ser200=
NR_024048.2:n.1074T>C
XM_006724836.1:c.786T>C	XP_006724899.1:p.Ser262=
XM_006724837.1:c.771T>C	XP_006724900.1:p.Ser257=
XM_006724839.1:c.654T>C	XP_006724902.1:p.Ser218=
XM_006724841.2:c.525T>C	XP_006724904.1:p.Ser175=
XM_006724842.2:c.435T>C	XP_006724905.1:p.Ser145=
XM_011531189.1:c.573T>C	XP_011529491.1:p.Ser191=
XM_011531190.1:c.525T>C	XP_011529492.1:p.Ser175=
XM_011531191.1:c.456T>C	XP_011529493.1:p.Ser152=
XM_011531192.1:c.453T>C	XP_011529494.1:p.Ser151=
XR_938511.1:n.1080T>C
XM_006724841.4:c.525T>C	XP_006724904.1:p.Ser175=
XM_006724842.4:c.435T>C	XP_006724905.1:p.Ser145=
XM_011531191.2:c.456T>C	XP_011529493.1:p.Ser152=
XM_017029761.1:c.717T>C	XP_016885250.1:p.Ser239=
XM_017029762.1:c.696T>C	XP_016885251.1:p.Ser232=
XM_017029763.1:c.519T>C	XP_016885252.1:p.Ser173=
XM_017029764.1:c.453T>C	XP_016885253.1:p.Ser151=
XM_017029765.2:c.393T>C	XP_016885254.1:p.Ser131=
XM_024452431.1:c.690T>C	XP_024308199.1:p.Ser230=
NM_000116.5:c.732T>C MANE Select	NP_000107.1:p.Ser244=
NM_001303465.2:c.744T>C	NP_001290394.1:p.Ser248=
NM_181311.4:c.642T>C	NP_851828.1:p.Ser214=
NM_181312.4:c.690T>C	NP_851829.1:p.Ser230=
NM_181313.4:c.600T>C	NP_851830.1:p.Ser200=
NR_024048.3:n.1053T>C