Canonical Allele Identifier: CA415185426

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649037C>A (hg19) ; chrX:g.154420698C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420698C>A , CM000685.2:g.154420698C>A	GRCh38
NC_000023.10:g.153649037C>A , CM000685.1:g.153649037C>A	GRCh37
NC_000023.9:g.153302231C>A	NCBI36
NG_009634.1:g.14161C>A
NG_009634.2:g.14164C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1550C>A
ENST00000698317.1:n.2166C>A
ENST00000698318.1:n.1949C>A
ENST00000698319.1:n.1312C>A
ENST00000698320.1:n.1200C>A
ENST00000470127.2:n.1213C>A
ENST00000475699.6:c.704C>A	ENSP00000419854.3:p.Pro235His
ENST00000483674.3:n.622C>A
ENST00000601016.6:c.740C>A MANE Select	ENSP00000469981.1:p.Pro247His
ENST00000612012.5:c.698C>A	ENSP00000482070.2:p.Pro233His
ENST00000612460.5:c.650C>A	ENSP00000481037.1:p.Pro217His
ENST00000614595.2:n.2087C>A
ENST00000615658.5:n.1329C>A
ENST00000616020.5:c.752C>A	ENSP00000483636.2:p.Pro251His
ENST00000617701.5:c.*753C>A	ENSP00000481645.1:n.*753C>A
ENST00000651139.1:c.-44C>A	ENSP00000498957.1:n.-44C>A
ENST00000652354.1:c.422C>A	ENSP00000498734.1:p.Pro141His
ENST00000652358.1:c.533C>A	ENSP00000498464.1:p.Pro178His
ENST00000652390.1:c.659C>A	ENSP00000498858.1:p.Pro220His
ENST00000652476.1:n.1406C>A
ENST00000652644.1:c.353C>A	ENSP00000498496.1:p.Pro118His
ENST00000652682.1:c.797C>A	ENSP00000498288.1:p.Pro266His
ENST00000652685.1:n.1093C>A
ENST00000369776.8:c.650C>A	ENSP00000358791.4:p.Pro217His
ENST00000426231.5:c.737C>A
ENST00000475699.5:c.698C>A	ENSP00000419854.2:p.Pro233His
ENST00000494912.5:n.1429C>A
ENST00000498029.1:n.198C>A
ENST00000601016.5:c.740C>A	ENSP00000469981.1:p.Pro247His
ENST00000612460.4:c.650C>A	ENSP00000481037.1:p.Pro217His
ENST00000613002.4:c.608C>A	ENSP00000478154.1:p.Pro203His
ENST00000615986.4:c.*468C>A	ENSP00000480133.1:n.*468C>A
NM_000116.4:c.740C>A	NP_000107.1:p.Pro247His
NM_001303465.1:c.752C>A	NP_001290394.1:p.Pro251His
NM_181311.3:c.650C>A	NP_851828.1:p.Pro217His
NM_181312.3:c.698C>A	NP_851829.1:p.Pro233His
NM_181313.3:c.608C>A	NP_851830.1:p.Pro203His
NR_024048.2:n.1082C>A
XM_006724836.1:c.794C>A	XP_006724899.1:p.Pro265His
XM_006724837.1:c.779C>A	XP_006724900.1:p.Pro260His
XM_006724839.1:c.662C>A	XP_006724902.1:p.Pro221His
XM_006724841.2:c.533C>A	XP_006724904.1:p.Pro178His
XM_006724842.2:c.443C>A	XP_006724905.1:p.Pro148His
XM_011531189.1:c.581C>A	XP_011529491.1:p.Pro194His
XM_011531190.1:c.533C>A	XP_011529492.1:p.Pro178His
XM_011531191.1:c.464C>A	XP_011529493.1:p.Pro155His
XM_011531192.1:c.461C>A	XP_011529494.1:p.Pro154His
XR_938511.1:n.1088C>A
XM_006724841.4:c.533C>A	XP_006724904.1:p.Pro178His
XM_006724842.4:c.443C>A	XP_006724905.1:p.Pro148His
XM_011531191.2:c.464C>A	XP_011529493.1:p.Pro155His
XM_017029761.1:c.725C>A	XP_016885250.1:p.Pro242His
XM_017029762.1:c.704C>A	XP_016885251.1:p.Pro235His
XM_017029763.1:c.527C>A	XP_016885252.1:p.Pro176His
XM_017029764.1:c.461C>A	XP_016885253.1:p.Pro154His
XM_017029765.2:c.401C>A	XP_016885254.1:p.Pro134His
XM_024452431.1:c.698C>A	XP_024308199.1:p.Pro233His
NM_000116.5:c.740C>A MANE Select	NP_000107.1:p.Pro247His
NM_001303465.2:c.752C>A	NP_001290394.1:p.Pro251His
NM_181311.4:c.650C>A	NP_851828.1:p.Pro217His
NM_181312.4:c.698C>A	NP_851829.1:p.Pro233His
NM_181313.4:c.608C>A	NP_851830.1:p.Pro203His
NR_024048.3:n.1061C>A