Canonical Allele Identifier: CA415184340

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648416T>G (hg19) ; chrX:g.154420077T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420077T>G , CM000685.2:g.154420077T>G	GRCh38
NC_000023.10:g.153648416T>G , CM000685.1:g.153648416T>G	GRCh37
NC_000023.9:g.153301610T>G	NCBI36
NG_009634.1:g.13540T>G
NG_009634.2:g.13543T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1439T>G
ENST00000698317.1:n.2055T>G
ENST00000698318.1:n.1838T>G
ENST00000698319.1:n.1201T>G
ENST00000698320.1:n.1089T>G
ENST00000470127.2:n.1102T>G
ENST00000475699.6:c.593T>G	ENSP00000419854.3:p.Leu198Arg
ENST00000483674.3:n.511T>G
ENST00000601016.6:c.629T>G MANE Select	ENSP00000469981.1:p.Leu210Arg
ENST00000612012.5:c.587T>G	ENSP00000482070.2:p.Leu196Arg
ENST00000612460.5:c.539T>G	ENSP00000481037.1:p.Leu180Arg
ENST00000614595.2:n.1976T>G
ENST00000615658.5:n.1218T>G
ENST00000616020.5:c.641T>G	ENSP00000483636.2:p.Leu214Arg
ENST00000617701.5:c.*642T>G	ENSP00000481645.1:n.*642T>G
ENST00000652354.1:c.311T>G	ENSP00000498734.1:p.Leu104Arg
ENST00000652358.1:c.422T>G	ENSP00000498464.1:p.Leu141Arg
ENST00000652390.1:c.548T>G	ENSP00000498858.1:p.Leu183Arg
ENST00000652476.1:n.1295T>G
ENST00000652644.1:c.242T>G	ENSP00000498496.1:p.Leu81Arg
ENST00000652682.1:c.686T>G	ENSP00000498288.1:p.Leu229Arg
ENST00000652685.1:n.982T>G
ENST00000369776.8:c.422T>G	ENSP00000358791.4:p.Leu141Arg
ENST00000426231.5:c.626T>G
ENST00000439735.2:c.536T>G	ENSP00000398193.1:p.Leu179Arg
ENST00000470127.1:n.208T>G
ENST00000475699.5:c.587T>G	ENSP00000419854.2:p.Leu196Arg
ENST00000494912.5:n.1318T>G
ENST00000498029.1:n.87T>G
ENST00000601016.5:c.629T>G	ENSP00000469981.1:p.Leu210Arg
ENST00000612460.4:c.539T>G	ENSP00000481037.1:p.Leu180Arg
ENST00000613002.4:c.497T>G	ENSP00000478154.1:p.Leu166Arg
ENST00000615658.4:n.1318T>G
ENST00000615986.4:c.*357T>G	ENSP00000480133.1:n.*357T>G
ENST00000620808.4:c.*215T>G	ENSP00000479311.1:n.*215T>G
NM_000116.4:c.629T>G	NP_000107.1:p.Leu210Arg
NM_001303465.1:c.641T>G	NP_001290394.1:p.Leu214Arg
NM_181311.3:c.539T>G	NP_851828.1:p.Leu180Arg
NM_181312.3:c.587T>G	NP_851829.1:p.Leu196Arg
NM_181313.3:c.497T>G	NP_851830.1:p.Leu166Arg
NR_024048.2:n.971T>G
XM_006724836.1:c.683T>G	XP_006724899.1:p.Leu228Arg
XM_006724837.1:c.551T>G	XP_006724900.1:p.Leu184Arg
XM_006724839.1:c.551T>G	XP_006724902.1:p.Leu184Arg
XM_006724841.2:c.422T>G	XP_006724904.1:p.Leu141Arg
XM_006724842.2:c.332T>G	XP_006724905.1:p.Leu111Arg
XM_011531189.1:c.470T>G	XP_011529491.1:p.Leu157Arg
XM_011531190.1:c.422T>G	XP_011529492.1:p.Leu141Arg
XM_011531191.1:c.353T>G	XP_011529493.1:p.Leu118Arg
XM_011531192.1:c.350T>G	XP_011529494.1:p.Leu117Arg
XR_938511.1:n.977T>G
XM_006724841.4:c.422T>G	XP_006724904.1:p.Leu141Arg
XM_006724842.4:c.332T>G	XP_006724905.1:p.Leu111Arg
XM_011531191.2:c.353T>G	XP_011529493.1:p.Leu118Arg
XM_017029761.1:c.497T>G	XP_016885250.1:p.Leu166Arg
XM_017029762.1:c.593T>G	XP_016885251.1:p.Leu198Arg
XM_017029763.1:c.416T>G	XP_016885252.1:p.Leu139Arg
XM_017029764.1:c.350T>G	XP_016885253.1:p.Leu117Arg
XM_017029765.2:c.290T>G	XP_016885254.1:p.Leu97Arg
XM_024452431.1:c.470T>G	XP_024308199.1:p.Leu157Arg
NM_000116.5:c.629T>G MANE Select	NP_000107.1:p.Leu210Arg
NM_001303465.2:c.641T>G	NP_001290394.1:p.Leu214Arg
NM_181311.4:c.539T>G	NP_851828.1:p.Leu180Arg
NM_181312.4:c.587T>G	NP_851829.1:p.Leu196Arg
NM_181313.4:c.497T>G	NP_851830.1:p.Leu166Arg
NR_024048.3:n.950T>G