Canonical Allele Identifier: CA519278018

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648399T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420060T>C , CM000685.2:g.154420060T>C	GRCh38
NC_000023.10:g.153648399T>C , CM000685.1:g.153648399T>C	GRCh37
NC_000023.9:g.153301593T>C	NCBI36
NG_009634.1:g.13523T>C
NG_009634.2:g.13526T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1422T>C
ENST00000698317.1:n.2038T>C
ENST00000698318.1:n.1821T>C
ENST00000698319.1:n.1184T>C
ENST00000698320.1:n.1072T>C
ENST00000470127.2:n.1085T>C
ENST00000475699.6:c.576T>C	ENSP00000419854.3:p.His192=
ENST00000483674.3:n.494T>C
ENST00000601016.6:c.612T>C MANE Select	ENSP00000469981.1:p.His204=
ENST00000612012.5:c.570T>C	ENSP00000482070.2:p.His190=
ENST00000612460.5:c.522T>C	ENSP00000481037.1:p.His174=
ENST00000614595.2:n.1959T>C
ENST00000615658.5:n.1201T>C
ENST00000616020.5:c.624T>C	ENSP00000483636.2:p.His208=
ENST00000617701.5:c.*625T>C	ENSP00000481645.1:n.*625T>C
ENST00000652354.1:c.294T>C	ENSP00000498734.1:p.His98=
ENST00000652358.1:c.405T>C	ENSP00000498464.1:p.His135=
ENST00000652390.1:c.531T>C	ENSP00000498858.1:p.His177=
ENST00000652476.1:n.1278T>C
ENST00000652644.1:c.225T>C	ENSP00000498496.1:p.His75=
ENST00000652682.1:c.669T>C	ENSP00000498288.1:p.His223=
ENST00000652685.1:n.965T>C
ENST00000369776.8:c.405T>C	ENSP00000358791.4:p.His135=
ENST00000426231.5:c.609T>C
ENST00000439735.2:c.519T>C	ENSP00000398193.1:p.His173=
ENST00000470127.1:n.191T>C
ENST00000475699.5:c.570T>C	ENSP00000419854.2:p.His190=
ENST00000494912.5:n.1301T>C
ENST00000498029.1:n.70T>C
ENST00000601016.5:c.612T>C	ENSP00000469981.1:p.His204=
ENST00000612012.4:c.576T>C	ENSP00000482070.1:p.His192=
ENST00000612460.4:c.522T>C	ENSP00000481037.1:p.His174=
ENST00000613002.4:c.480T>C	ENSP00000478154.1:p.His160=
ENST00000615658.4:n.1301T>C
ENST00000615986.4:c.*340T>C	ENSP00000480133.1:n.*340T>C
ENST00000620808.4:c.*198T>C	ENSP00000479311.1:n.*198T>C
NM_000116.4:c.612T>C	NP_000107.1:p.His204=
NM_001303465.1:c.624T>C	NP_001290394.1:p.His208=
NM_181311.3:c.522T>C	NP_851828.1:p.His174=
NM_181312.3:c.570T>C	NP_851829.1:p.His190=
NM_181313.3:c.480T>C	NP_851830.1:p.His160=
NR_024048.2:n.954T>C
XM_006724836.1:c.666T>C	XP_006724899.1:p.His222=
XM_006724837.1:c.534T>C	XP_006724900.1:p.His178=
XM_006724839.1:c.534T>C	XP_006724902.1:p.His178=
XM_006724841.2:c.405T>C	XP_006724904.1:p.His135=
XM_006724842.2:c.315T>C	XP_006724905.1:p.His105=
XM_011531189.1:c.453T>C	XP_011529491.1:p.His151=
XM_011531190.1:c.405T>C	XP_011529492.1:p.His135=
XM_011531191.1:c.336T>C	XP_011529493.1:p.His112=
XM_011531192.1:c.333T>C	XP_011529494.1:p.His111=
XR_938511.1:n.960T>C
XM_006724841.4:c.405T>C	XP_006724904.1:p.His135=
XM_006724842.4:c.315T>C	XP_006724905.1:p.His105=
XM_011531191.2:c.336T>C	XP_011529493.1:p.His112=
XM_017029761.1:c.480T>C	XP_016885250.1:p.His160=
XM_017029762.1:c.576T>C	XP_016885251.1:p.His192=
XM_017029763.1:c.399T>C	XP_016885252.1:p.His133=
XM_017029764.1:c.333T>C	XP_016885253.1:p.His111=
XM_017029765.2:c.273T>C	XP_016885254.1:p.His91=
XM_024452431.1:c.453T>C	XP_024308199.1:p.His151=
NM_000116.5:c.612T>C MANE Select	NP_000107.1:p.His204=
NM_001303465.2:c.624T>C	NP_001290394.1:p.His208=
NM_181311.4:c.522T>C	NP_851828.1:p.His174=
NM_181312.4:c.570T>C	NP_851829.1:p.His190=
NM_181313.4:c.480T>C	NP_851830.1:p.His160=
NR_024048.3:n.933T>C