Canonical Allele Identifier: CA415185206

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648586T>A (hg19) ; chrX:g.154420247T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420247T>A , CM000685.2:g.154420247T>A	GRCh38
NC_000023.10:g.153648586T>A , CM000685.1:g.153648586T>A	GRCh37
NC_000023.9:g.153301780T>A	NCBI36
NG_009634.1:g.13710T>A
NG_009634.2:g.13713T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1492T>A
ENST00000698317.1:n.2108T>A
ENST00000698318.1:n.1891T>A
ENST00000698319.1:n.1254T>A
ENST00000698320.1:n.1142T>A
ENST00000470127.2:n.1155T>A
ENST00000475699.6:c.646T>A	ENSP00000419854.3:p.Phe216Ile
ENST00000483674.3:n.564T>A
ENST00000601016.6:c.682T>A MANE Select	ENSP00000469981.1:p.Phe228Ile
ENST00000612012.5:c.640T>A	ENSP00000482070.2:p.Phe214Ile
ENST00000612460.5:c.592T>A	ENSP00000481037.1:p.Phe198Ile
ENST00000614595.2:n.2029T>A
ENST00000615658.5:n.1271T>A
ENST00000616020.5:c.694T>A	ENSP00000483636.2:p.Phe232Ile
ENST00000617701.5:c.*695T>A	ENSP00000481645.1:n.*695T>A
ENST00000652354.1:c.364T>A	ENSP00000498734.1:p.Phe122Ile
ENST00000652358.1:c.475T>A	ENSP00000498464.1:p.Phe159Ile
ENST00000652390.1:c.601T>A	ENSP00000498858.1:p.Phe201Ile
ENST00000652476.1:n.1348T>A
ENST00000652644.1:c.295T>A	ENSP00000498496.1:p.Phe99Ile
ENST00000652682.1:c.739T>A	ENSP00000498288.1:p.Phe247Ile
ENST00000652685.1:n.1035T>A
ENST00000369776.8:c.592T>A	ENSP00000358791.4:p.Phe198Ile
ENST00000426231.5:c.679T>A
ENST00000475699.5:c.640T>A	ENSP00000419854.2:p.Phe214Ile
ENST00000494912.5:n.1371T>A
ENST00000498029.1:n.140T>A
ENST00000601016.5:c.682T>A	ENSP00000469981.1:p.Phe228Ile
ENST00000612460.4:c.592T>A	ENSP00000481037.1:p.Phe198Ile
ENST00000613002.4:c.550T>A	ENSP00000478154.1:p.Phe184Ile
ENST00000615986.4:c.*410T>A	ENSP00000480133.1:n.*410T>A
NM_000116.4:c.682T>A	NP_000107.1:p.Phe228Ile
NM_001303465.1:c.694T>A	NP_001290394.1:p.Phe232Ile
NM_181311.3:c.592T>A	NP_851828.1:p.Phe198Ile
NM_181312.3:c.640T>A	NP_851829.1:p.Phe214Ile
NM_181313.3:c.550T>A	NP_851830.1:p.Phe184Ile
NR_024048.2:n.1024T>A
XM_006724836.1:c.736T>A	XP_006724899.1:p.Phe246Ile
XM_006724837.1:c.721T>A	XP_006724900.1:p.Phe241Ile
XM_006724839.1:c.604T>A	XP_006724902.1:p.Phe202Ile
XM_006724841.2:c.475T>A	XP_006724904.1:p.Phe159Ile
XM_006724842.2:c.385T>A	XP_006724905.1:p.Phe129Ile
XM_011531189.1:c.523T>A	XP_011529491.1:p.Phe175Ile
XM_011531190.1:c.475T>A	XP_011529492.1:p.Phe159Ile
XM_011531191.1:c.406T>A	XP_011529493.1:p.Phe136Ile
XM_011531192.1:c.403T>A	XP_011529494.1:p.Phe135Ile
XR_938511.1:n.1030T>A
XM_006724841.4:c.475T>A	XP_006724904.1:p.Phe159Ile
XM_006724842.4:c.385T>A	XP_006724905.1:p.Phe129Ile
XM_011531191.2:c.406T>A	XP_011529493.1:p.Phe136Ile
XM_017029761.1:c.667T>A	XP_016885250.1:p.Phe223Ile
XM_017029762.1:c.646T>A	XP_016885251.1:p.Phe216Ile
XM_017029763.1:c.469T>A	XP_016885252.1:p.Phe157Ile
XM_017029764.1:c.403T>A	XP_016885253.1:p.Phe135Ile
XM_017029765.2:c.343T>A	XP_016885254.1:p.Phe115Ile
XM_024452431.1:c.640T>A	XP_024308199.1:p.Phe214Ile
NM_000116.5:c.682T>A MANE Select	NP_000107.1:p.Phe228Ile
NM_001303465.2:c.694T>A	NP_001290394.1:p.Phe232Ile
NM_181311.4:c.592T>A	NP_851828.1:p.Phe198Ile
NM_181312.4:c.640T>A	NP_851829.1:p.Phe214Ile
NM_181313.4:c.550T>A	NP_851830.1:p.Phe184Ile
NR_024048.3:n.1003T>A