Canonical Allele Identifier: CA415185473

Gene: TAFAZZIN

Linked Data

• gnomAD v4: X-154420716-G-T
• MyVariant Identifiers: chrX:g.153649055G>T (hg19) ; chrX:g.154420716G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420716G>T , CM000685.2:g.154420716G>T	GRCh38
NC_000023.10:g.153649055G>T , CM000685.1:g.153649055G>T	GRCh37
NC_000023.9:g.153302249G>T	NCBI36
NG_009634.1:g.14179G>T
NG_009634.2:g.14182G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1568G>T
ENST00000698317.1:n.2184G>T
ENST00000698318.1:n.1967G>T
ENST00000698319.1:n.1330G>T
ENST00000698320.1:n.1218G>T
ENST00000470127.2:n.1231G>T
ENST00000475699.6:c.722G>T	ENSP00000419854.3:p.Arg241Leu
ENST00000483674.3:n.640G>T
ENST00000601016.6:c.758G>T MANE Select	ENSP00000469981.1:p.Arg253Leu
ENST00000612012.5:c.716G>T	ENSP00000482070.2:p.Arg239Leu
ENST00000612460.5:c.668G>T	ENSP00000481037.1:p.Arg223Leu
ENST00000614595.2:n.2105G>T
ENST00000615658.5:n.1347G>T
ENST00000616020.5:c.770G>T	ENSP00000483636.2:p.Arg257Leu
ENST00000617701.5:c.*771G>T	ENSP00000481645.1:n.*771G>T
ENST00000651139.1:c.-26G>T	ENSP00000498957.1:n.-26G>T
ENST00000652354.1:c.440G>T	ENSP00000498734.1:p.Arg147Leu
ENST00000652358.1:c.551G>T	ENSP00000498464.1:p.Arg184Leu
ENST00000652390.1:c.677G>T	ENSP00000498858.1:p.Arg226Leu
ENST00000652476.1:n.1424G>T
ENST00000652644.1:c.371G>T	ENSP00000498496.1:p.Arg124Leu
ENST00000652682.1:c.815G>T	ENSP00000498288.1:p.Arg272Leu
ENST00000652685.1:n.1111G>T
ENST00000369776.8:c.668G>T	ENSP00000358791.4:p.Arg223Leu
ENST00000426231.5:c.755G>T
ENST00000475699.5:c.716G>T	ENSP00000419854.2:p.Arg239Leu
ENST00000494912.5:n.1447G>T
ENST00000498029.1:n.216G>T
ENST00000601016.5:c.758G>T	ENSP00000469981.1:p.Arg253Leu
ENST00000612460.4:c.668G>T	ENSP00000481037.1:p.Arg223Leu
ENST00000613002.4:c.626G>T	ENSP00000478154.1:p.Arg209Leu
ENST00000615986.4:c.*486G>T	ENSP00000480133.1:n.*486G>T
NM_000116.4:c.758G>T	NP_000107.1:p.Arg253Leu
NM_001303465.1:c.770G>T	NP_001290394.1:p.Arg257Leu
NM_181311.3:c.668G>T	NP_851828.1:p.Arg223Leu
NM_181312.3:c.716G>T	NP_851829.1:p.Arg239Leu
NM_181313.3:c.626G>T	NP_851830.1:p.Arg209Leu
NR_024048.2:n.1100G>T
XM_006724836.1:c.812G>T	XP_006724899.1:p.Arg271Leu
XM_006724837.1:c.797G>T	XP_006724900.1:p.Arg266Leu
XM_006724839.1:c.680G>T	XP_006724902.1:p.Arg227Leu
XM_006724841.2:c.551G>T	XP_006724904.1:p.Arg184Leu
XM_006724842.2:c.461G>T	XP_006724905.1:p.Arg154Leu
XM_011531189.1:c.599G>T	XP_011529491.1:p.Arg200Leu
XM_011531190.1:c.551G>T	XP_011529492.1:p.Arg184Leu
XM_011531191.1:c.482G>T	XP_011529493.1:p.Arg161Leu
XM_011531192.1:c.479G>T	XP_011529494.1:p.Arg160Leu
XR_938511.1:n.1106G>T
XM_006724841.4:c.551G>T	XP_006724904.1:p.Arg184Leu
XM_006724842.4:c.461G>T	XP_006724905.1:p.Arg154Leu
XM_011531191.2:c.482G>T	XP_011529493.1:p.Arg161Leu
XM_017029761.1:c.743G>T	XP_016885250.1:p.Arg248Leu
XM_017029762.1:c.722G>T	XP_016885251.1:p.Arg241Leu
XM_017029763.1:c.545G>T	XP_016885252.1:p.Arg182Leu
XM_017029764.1:c.479G>T	XP_016885253.1:p.Arg160Leu
XM_017029765.2:c.419G>T	XP_016885254.1:p.Arg140Leu
XM_024452431.1:c.716G>T	XP_024308199.1:p.Arg239Leu
NM_000116.5:c.758G>T MANE Select	NP_000107.1:p.Arg253Leu
NM_001303465.2:c.770G>T	NP_001290394.1:p.Arg257Leu
NM_181311.4:c.668G>T	NP_851828.1:p.Arg223Leu
NM_181312.4:c.716G>T	NP_851829.1:p.Arg239Leu
NM_181313.4:c.626G>T	NP_851830.1:p.Arg209Leu
NR_024048.3:n.1079G>T