Canonical Allele Identifier: CA519277464

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153641548C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413211C>T , CM000685.2:g.154413211C>T	GRCh38
NC_000023.10:g.153641548C>T , CM000685.1:g.153641548C>T	GRCh37
NC_000023.9:g.153294742C>T	NCBI36
NG_009634.1:g.6672C>T
NG_012884.2:g.3878G>A
NG_009634.2:g.6677C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.671C>T
ENST00000698235.1:n.230C>T
ENST00000698317.1:n.1197C>T
ENST00000698318.1:n.1058C>T
ENST00000470127.2:n.292C>T
ENST00000475699.6:c.297C>T	ENSP00000419854.3:p.Ile99=
ENST00000476800.2:n.1200C>T
ENST00000483674.3:n.134C>T
ENST00000601016.6:c.243C>T MANE Select	ENSP00000469981.1:p.Ile81=
ENST00000612012.5:c.243C>T	ENSP00000482070.2:p.Ile81=
ENST00000612460.5:c.243C>T	ENSP00000481037.1:p.Ile81=
ENST00000614595.2:n.1593C>T
ENST00000615658.5:n.556C>T
ENST00000616020.5:c.297C>T	ENSP00000483636.2:p.Ile99=
ENST00000617701.5:c.243C>T	ENSP00000481645.1:p.Ile81=
ENST00000621647.2:n.296C>T
ENST00000652354.1:c.-34C>T	ENSP00000498734.1:n.-34C>T
ENST00000652358.1:c.-52C>T	ENSP00000498464.1:n.-52C>T
ENST00000652390.1:c.162C>T	ENSP00000498858.1:p.Ile54=
ENST00000652476.1:n.404C>T
ENST00000652682.1:c.243C>T	ENSP00000498288.1:p.Ile81=
ENST00000652685.1:n.295C>T
ENST00000369776.8:c.168C>T	ENSP00000358791.4:p.Ile56=
ENST00000426231.5:c.59C>T
ENST00000439735.2:c.243C>T	ENSP00000398193.1:p.Ile81=
ENST00000475699.5:c.243C>T	ENSP00000419854.2:p.Ile81=
ENST00000476679.5:n.156C>T
ENST00000476800.1:n.121C>T
ENST00000479875.1:n.272C>T
ENST00000483780.5:n.17C>T
ENST00000601016.5:c.243C>T	ENSP00000469981.1:p.Ile81=
ENST00000612012.4:c.297C>T	ENSP00000482070.1:p.Ile99=
ENST00000612460.4:c.243C>T	ENSP00000481037.1:p.Ile81=
ENST00000613002.4:c.243C>T	ENSP00000478154.1:p.Ile81=
ENST00000613634.4:n.563C>T
ENST00000615658.4:n.569C>T
ENST00000615986.4:c.243C>T	ENSP00000480133.1:p.Ile81=
ENST00000616020.4:c.297C>T	ENSP00000483636.1:p.Ile99=
ENST00000617701.4:c.243C>T	ENSP00000481645.1:p.Ile81=
ENST00000620808.4:c.243C>T	ENSP00000479311.1:p.Ile81=
ENST00000621647.1:n.528C>T
NM_000116.4:c.243C>T	NP_000107.1:p.Ile81=
NM_001303465.1:c.297C>T	NP_001290394.1:p.Ile99=
NM_181311.3:c.243C>T	NP_851828.1:p.Ile81=
NM_181312.3:c.243C>T	NP_851829.1:p.Ile81=
NM_181313.3:c.243C>T	NP_851830.1:p.Ile81=
NR_024048.2:n.569C>T
XM_006724836.1:c.297C>T	XP_006724899.1:p.Ile99=
XM_006724837.1:c.297C>T	XP_006724900.1:p.Ile99=
XM_006724839.1:c.297C>T	XP_006724902.1:p.Ile99=
XM_006724841.2:c.-52C>T	XP_006724904.1:n.-52C>T
XM_006724842.2:c.-52C>T	XP_006724905.1:n.-52C>T
XM_011531189.1:c.297C>T	XP_011529491.1:p.Ile99=
XM_011531190.1:c.-52C>T	XP_011529492.1:n.-52C>T
XM_011531191.1:c.-34C>T	XP_011529493.1:n.-34C>T
XM_011531192.1:c.-155C>T	XP_011529494.1:n.-155C>T
XR_938511.1:n.600C>T
XM_006724841.4:c.-52C>T	XP_006724904.1:n.-52C>T
XM_006724842.4:c.-52C>T	XP_006724905.1:n.-52C>T
XM_011531191.2:c.-34C>T	XP_011529493.1:n.-34C>T
XM_017029761.1:c.243C>T	XP_016885250.1:p.Ile81=
XM_017029762.1:c.297C>T	XP_016885251.1:p.Ile99=
XM_017029763.1:c.243C>T	XP_016885252.1:p.Ile81=
XM_017029765.2:c.-52C>T	XP_016885254.1:n.-52C>T
XM_024452431.1:c.297C>T	XP_024308199.1:p.Ile99=
NM_000116.5:c.243C>T MANE Select	NP_000107.1:p.Ile81=
NM_001303465.2:c.297C>T	NP_001290394.1:p.Ile99=
NM_181311.4:c.243C>T	NP_851828.1:p.Ile81=
NM_181312.4:c.243C>T	NP_851829.1:p.Ile81=
NM_181313.4:c.243C>T	NP_851830.1:p.Ile81=
NR_024048.3:n.548C>T