Canonical Allele Identifier: CA519278014

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648390T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420051T>C , CM000685.2:g.154420051T>C	GRCh38
NC_000023.10:g.153648390T>C , CM000685.1:g.153648390T>C	GRCh37
NC_000023.9:g.153301584T>C	NCBI36
NG_009634.1:g.13514T>C
NG_009634.2:g.13517T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.1413T>C
ENST00000698317.1:n.2029T>C
ENST00000698318.1:n.1812T>C
ENST00000698319.1:n.1175T>C
ENST00000698320.1:n.1063T>C
ENST00000470127.2:n.1076T>C
ENST00000475699.6:c.567T>C	ENSP00000419854.3:p.Ala189=
ENST00000483674.3:n.485T>C
ENST00000601016.6:c.603T>C MANE Select	ENSP00000469981.1:p.Ala201=
ENST00000612012.5:c.561T>C	ENSP00000482070.2:p.Ala187=
ENST00000612460.5:c.513T>C	ENSP00000481037.1:p.Ala171=
ENST00000614595.2:n.1950T>C
ENST00000615658.5:n.1192T>C
ENST00000616020.5:c.615T>C	ENSP00000483636.2:p.Ala205=
ENST00000617701.5:c.*616T>C	ENSP00000481645.1:n.*616T>C
ENST00000652354.1:c.285T>C	ENSP00000498734.1:p.Ala95=
ENST00000652358.1:c.396T>C	ENSP00000498464.1:p.Ala132=
ENST00000652390.1:c.522T>C	ENSP00000498858.1:p.Ala174=
ENST00000652476.1:n.1269T>C
ENST00000652644.1:c.216T>C	ENSP00000498496.1:p.Ala72=
ENST00000652682.1:c.660T>C	ENSP00000498288.1:p.Ala220=
ENST00000652685.1:n.956T>C
ENST00000369776.8:c.396T>C	ENSP00000358791.4:p.Ala132=
ENST00000426231.5:c.600T>C
ENST00000439735.2:c.510T>C	ENSP00000398193.1:p.Ala170=
ENST00000470127.1:n.182T>C
ENST00000475699.5:c.561T>C	ENSP00000419854.2:p.Ala187=
ENST00000494912.5:n.1292T>C
ENST00000498029.1:n.61T>C
ENST00000601016.5:c.603T>C	ENSP00000469981.1:p.Ala201=
ENST00000612012.4:c.567T>C	ENSP00000482070.1:p.Ala189=
ENST00000612460.4:c.513T>C	ENSP00000481037.1:p.Ala171=
ENST00000613002.4:c.471T>C	ENSP00000478154.1:p.Ala157=
ENST00000615658.4:n.1292T>C
ENST00000615986.4:c.*331T>C	ENSP00000480133.1:n.*331T>C
ENST00000620808.4:c.*189T>C	ENSP00000479311.1:n.*189T>C
NM_000116.4:c.603T>C	NP_000107.1:p.Ala201=
NM_001303465.1:c.615T>C	NP_001290394.1:p.Ala205=
NM_181311.3:c.513T>C	NP_851828.1:p.Ala171=
NM_181312.3:c.561T>C	NP_851829.1:p.Ala187=
NM_181313.3:c.471T>C	NP_851830.1:p.Ala157=
NR_024048.2:n.945T>C
XM_006724836.1:c.657T>C	XP_006724899.1:p.Ala219=
XM_006724837.1:c.525T>C	XP_006724900.1:p.Ala175=
XM_006724839.1:c.525T>C	XP_006724902.1:p.Ala175=
XM_006724841.2:c.396T>C	XP_006724904.1:p.Ala132=
XM_006724842.2:c.306T>C	XP_006724905.1:p.Ala102=
XM_011531189.1:c.444T>C	XP_011529491.1:p.Ala148=
XM_011531190.1:c.396T>C	XP_011529492.1:p.Ala132=
XM_011531191.1:c.327T>C	XP_011529493.1:p.Ala109=
XM_011531192.1:c.324T>C	XP_011529494.1:p.Ala108=
XR_938511.1:n.951T>C
XM_006724841.4:c.396T>C	XP_006724904.1:p.Ala132=
XM_006724842.4:c.306T>C	XP_006724905.1:p.Ala102=
XM_011531191.2:c.327T>C	XP_011529493.1:p.Ala109=
XM_017029761.1:c.471T>C	XP_016885250.1:p.Ala157=
XM_017029762.1:c.567T>C	XP_016885251.1:p.Ala189=
XM_017029763.1:c.390T>C	XP_016885252.1:p.Ala130=
XM_017029764.1:c.324T>C	XP_016885253.1:p.Ala108=
XM_017029765.2:c.264T>C	XP_016885254.1:p.Ala88=
XM_024452431.1:c.444T>C	XP_024308199.1:p.Ala148=
NM_000116.5:c.603T>C MANE Select	NP_000107.1:p.Ala201=
NM_001303465.2:c.615T>C	NP_001290394.1:p.Ala205=
NM_181311.4:c.513T>C	NP_851828.1:p.Ala171=
NM_181312.4:c.561T>C	NP_851829.1:p.Ala187=
NM_181313.4:c.471T>C	NP_851830.1:p.Ala157=
NR_024048.3:n.924T>C