Canonical Allele Identifier: CA519278022

Gene: TAFAZZIN

Linked Data

• gnomAD v4: X-154420066-C-T
• MyVariant Identifiers: chrX:g.153648405C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420066C>T , CM000685.2:g.154420066C>T	GRCh38
NC_000023.10:g.153648405C>T , CM000685.1:g.153648405C>T	GRCh37
NC_000023.9:g.153301599C>T	NCBI36
NG_009634.1:g.13529C>T
NG_009634.2:g.13532C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1428C>T
ENST00000698317.1:n.2044C>T
ENST00000698318.1:n.1827C>T
ENST00000698319.1:n.1190C>T
ENST00000698320.1:n.1078C>T
ENST00000470127.2:n.1091C>T
ENST00000475699.6:c.582C>T	ENSP00000419854.3:p.Asn194=
ENST00000483674.3:n.500C>T
ENST00000601016.6:c.618C>T MANE Select	ENSP00000469981.1:p.Asn206=
ENST00000612012.5:c.576C>T	ENSP00000482070.2:p.Asn192=
ENST00000612460.5:c.528C>T	ENSP00000481037.1:p.Asn176=
ENST00000614595.2:n.1965C>T
ENST00000615658.5:n.1207C>T
ENST00000616020.5:c.630C>T	ENSP00000483636.2:p.Asn210=
ENST00000617701.5:c.*631C>T	ENSP00000481645.1:n.*631C>T
ENST00000652354.1:c.300C>T	ENSP00000498734.1:p.Asn100=
ENST00000652358.1:c.411C>T	ENSP00000498464.1:p.Asn137=
ENST00000652390.1:c.537C>T	ENSP00000498858.1:p.Asn179=
ENST00000652476.1:n.1284C>T
ENST00000652644.1:c.231C>T	ENSP00000498496.1:p.Asn77=
ENST00000652682.1:c.675C>T	ENSP00000498288.1:p.Asn225=
ENST00000652685.1:n.971C>T
ENST00000369776.8:c.411C>T	ENSP00000358791.4:p.Asn137=
ENST00000426231.5:c.615C>T
ENST00000439735.2:c.525C>T	ENSP00000398193.1:p.Asn175=
ENST00000470127.1:n.197C>T
ENST00000475699.5:c.576C>T	ENSP00000419854.2:p.Asn192=
ENST00000494912.5:n.1307C>T
ENST00000498029.1:n.76C>T
ENST00000601016.5:c.618C>T	ENSP00000469981.1:p.Asn206=
ENST00000612012.4:c.582C>T	ENSP00000482070.1:p.Asn194=
ENST00000612460.4:c.528C>T	ENSP00000481037.1:p.Asn176=
ENST00000613002.4:c.486C>T	ENSP00000478154.1:p.Asn162=
ENST00000615658.4:n.1307C>T
ENST00000615986.4:c.*346C>T	ENSP00000480133.1:n.*346C>T
ENST00000620808.4:c.*204C>T	ENSP00000479311.1:n.*204C>T
NM_000116.4:c.618C>T	NP_000107.1:p.Asn206=
NM_001303465.1:c.630C>T	NP_001290394.1:p.Asn210=
NM_181311.3:c.528C>T	NP_851828.1:p.Asn176=
NM_181312.3:c.576C>T	NP_851829.1:p.Asn192=
NM_181313.3:c.486C>T	NP_851830.1:p.Asn162=
NR_024048.2:n.960C>T
XM_006724836.1:c.672C>T	XP_006724899.1:p.Asn224=
XM_006724837.1:c.540C>T	XP_006724900.1:p.Asn180=
XM_006724839.1:c.540C>T	XP_006724902.1:p.Asn180=
XM_006724841.2:c.411C>T	XP_006724904.1:p.Asn137=
XM_006724842.2:c.321C>T	XP_006724905.1:p.Asn107=
XM_011531189.1:c.459C>T	XP_011529491.1:p.Asn153=
XM_011531190.1:c.411C>T	XP_011529492.1:p.Asn137=
XM_011531191.1:c.342C>T	XP_011529493.1:p.Asn114=
XM_011531192.1:c.339C>T	XP_011529494.1:p.Asn113=
XR_938511.1:n.966C>T
XM_006724841.4:c.411C>T	XP_006724904.1:p.Asn137=
XM_006724842.4:c.321C>T	XP_006724905.1:p.Asn107=
XM_011531191.2:c.342C>T	XP_011529493.1:p.Asn114=
XM_017029761.1:c.486C>T	XP_016885250.1:p.Asn162=
XM_017029762.1:c.582C>T	XP_016885251.1:p.Asn194=
XM_017029763.1:c.405C>T	XP_016885252.1:p.Asn135=
XM_017029764.1:c.339C>T	XP_016885253.1:p.Asn113=
XM_017029765.2:c.279C>T	XP_016885254.1:p.Asn93=
XM_024452431.1:c.459C>T	XP_024308199.1:p.Asn153=
NM_000116.5:c.618C>T MANE Select	NP_000107.1:p.Asn206=
NM_001303465.2:c.630C>T	NP_001290394.1:p.Asn210=
NM_181311.4:c.528C>T	NP_851828.1:p.Asn176=
NM_181312.4:c.576C>T	NP_851829.1:p.Asn192=
NM_181313.4:c.486C>T	NP_851830.1:p.Asn162=
NR_024048.3:n.939C>T