Canonical Allele Identifier: CA415185402

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649026C>A (hg19) ; chrX:g.154420687C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420687C>A , CM000685.2:g.154420687C>A	GRCh38
NC_000023.10:g.153649026C>A , CM000685.1:g.153649026C>A	GRCh37
NC_000023.9:g.153302220C>A	NCBI36
NG_009634.1:g.14150C>A
NG_009634.2:g.14153C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1539C>A
ENST00000698317.1:n.2155C>A
ENST00000698318.1:n.1938C>A
ENST00000698319.1:n.1301C>A
ENST00000698320.1:n.1189C>A
ENST00000470127.2:n.1202C>A
ENST00000475699.6:c.693C>A	ENSP00000419854.3:p.Phe231Leu
ENST00000483674.3:n.611C>A
ENST00000601016.6:c.729C>A MANE Select	ENSP00000469981.1:p.Phe243Leu
ENST00000612012.5:c.687C>A	ENSP00000482070.2:p.Phe229Leu
ENST00000612460.5:c.639C>A	ENSP00000481037.1:p.Phe213Leu
ENST00000614595.2:n.2076C>A
ENST00000615658.5:n.1318C>A
ENST00000616020.5:c.741C>A	ENSP00000483636.2:p.Phe247Leu
ENST00000617701.5:c.*742C>A	ENSP00000481645.1:n.*742C>A
ENST00000651139.1:c.-55C>A	ENSP00000498957.1:n.-55C>A
ENST00000652354.1:c.411C>A	ENSP00000498734.1:p.Phe137Leu
ENST00000652358.1:c.522C>A	ENSP00000498464.1:p.Phe174Leu
ENST00000652390.1:c.648C>A	ENSP00000498858.1:p.Phe216Leu
ENST00000652476.1:n.1395C>A
ENST00000652644.1:c.342C>A	ENSP00000498496.1:p.Phe114Leu
ENST00000652682.1:c.786C>A	ENSP00000498288.1:p.Phe262Leu
ENST00000652685.1:n.1082C>A
ENST00000369776.8:c.639C>A	ENSP00000358791.4:p.Phe213Leu
ENST00000426231.5:c.726C>A
ENST00000475699.5:c.687C>A	ENSP00000419854.2:p.Phe229Leu
ENST00000494912.5:n.1418C>A
ENST00000498029.1:n.187C>A
ENST00000601016.5:c.729C>A	ENSP00000469981.1:p.Phe243Leu
ENST00000612460.4:c.639C>A	ENSP00000481037.1:p.Phe213Leu
ENST00000613002.4:c.597C>A	ENSP00000478154.1:p.Phe199Leu
ENST00000615986.4:c.*457C>A	ENSP00000480133.1:n.*457C>A
NM_000116.4:c.729C>A	NP_000107.1:p.Phe243Leu
NM_001303465.1:c.741C>A	NP_001290394.1:p.Phe247Leu
NM_181311.3:c.639C>A	NP_851828.1:p.Phe213Leu
NM_181312.3:c.687C>A	NP_851829.1:p.Phe229Leu
NM_181313.3:c.597C>A	NP_851830.1:p.Phe199Leu
NR_024048.2:n.1071C>A
XM_006724836.1:c.783C>A	XP_006724899.1:p.Phe261Leu
XM_006724837.1:c.768C>A	XP_006724900.1:p.Phe256Leu
XM_006724839.1:c.651C>A	XP_006724902.1:p.Phe217Leu
XM_006724841.2:c.522C>A	XP_006724904.1:p.Phe174Leu
XM_006724842.2:c.432C>A	XP_006724905.1:p.Phe144Leu
XM_011531189.1:c.570C>A	XP_011529491.1:p.Phe190Leu
XM_011531190.1:c.522C>A	XP_011529492.1:p.Phe174Leu
XM_011531191.1:c.453C>A	XP_011529493.1:p.Phe151Leu
XM_011531192.1:c.450C>A	XP_011529494.1:p.Phe150Leu
XR_938511.1:n.1077C>A
XM_006724841.4:c.522C>A	XP_006724904.1:p.Phe174Leu
XM_006724842.4:c.432C>A	XP_006724905.1:p.Phe144Leu
XM_011531191.2:c.453C>A	XP_011529493.1:p.Phe151Leu
XM_017029761.1:c.714C>A	XP_016885250.1:p.Phe238Leu
XM_017029762.1:c.693C>A	XP_016885251.1:p.Phe231Leu
XM_017029763.1:c.516C>A	XP_016885252.1:p.Phe172Leu
XM_017029764.1:c.450C>A	XP_016885253.1:p.Phe150Leu
XM_017029765.2:c.390C>A	XP_016885254.1:p.Phe130Leu
XM_024452431.1:c.687C>A	XP_024308199.1:p.Phe229Leu
NM_000116.5:c.729C>A MANE Select	NP_000107.1:p.Phe243Leu
NM_001303465.2:c.741C>A	NP_001290394.1:p.Phe247Leu
NM_181311.4:c.639C>A	NP_851828.1:p.Phe213Leu
NM_181312.4:c.687C>A	NP_851829.1:p.Phe229Leu
NM_181313.4:c.597C>A	NP_851830.1:p.Phe199Leu
NR_024048.3:n.1050C>A