Canonical Allele Identifier: CA519278040

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 2880584
• ClinVar RCV Id: RCV003623660
• gnomAD v4: X-154420090-T-C
• MyVariant Identifiers: chrX:g.153648429T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420090T>C , CM000685.2:g.154420090T>C	GRCh38
NC_000023.10:g.153648429T>C , CM000685.1:g.153648429T>C	GRCh37
NC_000023.9:g.153301623T>C	NCBI36
NG_009634.1:g.13553T>C
NG_009634.2:g.13556T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1452T>C
ENST00000698317.1:n.2068T>C
ENST00000698318.1:n.1851T>C
ENST00000698319.1:n.1214T>C
ENST00000698320.1:n.1102T>C
ENST00000470127.2:n.1115T>C
ENST00000475699.6:c.606T>C	ENSP00000419854.3:p.His202=
ENST00000483674.3:n.524T>C
ENST00000601016.6:c.642T>C MANE Select	ENSP00000469981.1:p.His214=
ENST00000612012.5:c.600T>C	ENSP00000482070.2:p.His200=
ENST00000612460.5:c.552T>C	ENSP00000481037.1:p.His184=
ENST00000614595.2:n.1989T>C
ENST00000615658.5:n.1231T>C
ENST00000616020.5:c.654T>C	ENSP00000483636.2:p.His218=
ENST00000617701.5:c.*655T>C	ENSP00000481645.1:n.*655T>C
ENST00000652354.1:c.324T>C	ENSP00000498734.1:p.His108=
ENST00000652358.1:c.435T>C	ENSP00000498464.1:p.His145=
ENST00000652390.1:c.561T>C	ENSP00000498858.1:p.His187=
ENST00000652476.1:n.1308T>C
ENST00000652644.1:c.255T>C	ENSP00000498496.1:p.His85=
ENST00000652682.1:c.699T>C	ENSP00000498288.1:p.His233=
ENST00000652685.1:n.995T>C
ENST00000369776.8:c.435T>C	ENSP00000358791.4:p.His145=
ENST00000426231.5:c.639T>C
ENST00000439735.2:c.549T>C	ENSP00000398193.1:p.His183=
ENST00000470127.1:n.221T>C
ENST00000475699.5:c.600T>C	ENSP00000419854.2:p.His200=
ENST00000494912.5:n.1331T>C
ENST00000498029.1:n.100T>C
ENST00000601016.5:c.642T>C	ENSP00000469981.1:p.His214=
ENST00000612460.4:c.552T>C	ENSP00000481037.1:p.His184=
ENST00000613002.4:c.510T>C	ENSP00000478154.1:p.His170=
ENST00000615986.4:c.*370T>C	ENSP00000480133.1:n.*370T>C
NM_000116.4:c.642T>C	NP_000107.1:p.His214=
NM_001303465.1:c.654T>C	NP_001290394.1:p.His218=
NM_181311.3:c.552T>C	NP_851828.1:p.His184=
NM_181312.3:c.600T>C	NP_851829.1:p.His200=
NM_181313.3:c.510T>C	NP_851830.1:p.His170=
NR_024048.2:n.984T>C
XM_006724836.1:c.696T>C	XP_006724899.1:p.His232=
XM_006724837.1:c.564T>C	XP_006724900.1:p.His188=
XM_006724839.1:c.564T>C	XP_006724902.1:p.His188=
XM_006724841.2:c.435T>C	XP_006724904.1:p.His145=
XM_006724842.2:c.345T>C	XP_006724905.1:p.His115=
XM_011531189.1:c.483T>C	XP_011529491.1:p.His161=
XM_011531190.1:c.435T>C	XP_011529492.1:p.His145=
XM_011531191.1:c.366T>C	XP_011529493.1:p.His122=
XM_011531192.1:c.363T>C	XP_011529494.1:p.His121=
XR_938511.1:n.990T>C
XM_006724841.4:c.435T>C	XP_006724904.1:p.His145=
XM_006724842.4:c.345T>C	XP_006724905.1:p.His115=
XM_011531191.2:c.366T>C	XP_011529493.1:p.His122=
XM_017029761.1:c.510T>C	XP_016885250.1:p.His170=
XM_017029762.1:c.606T>C	XP_016885251.1:p.His202=
XM_017029763.1:c.429T>C	XP_016885252.1:p.His143=
XM_017029764.1:c.363T>C	XP_016885253.1:p.His121=
XM_017029765.2:c.303T>C	XP_016885254.1:p.His101=
XM_024452431.1:c.483T>C	XP_024308199.1:p.His161=
NM_000116.5:c.642T>C MANE Select	NP_000107.1:p.His214=
NM_001303465.2:c.654T>C	NP_001290394.1:p.His218=
NM_181311.4:c.552T>C	NP_851828.1:p.His184=
NM_181312.4:c.600T>C	NP_851829.1:p.His200=
NM_181313.4:c.510T>C	NP_851830.1:p.His170=
NR_024048.3:n.963T>C