Canonical Allele Identifier: CA415185223

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648590C>A (hg19) ; chrX:g.154420251C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420251C>A , CM000685.2:g.154420251C>A	GRCh38
NC_000023.10:g.153648590C>A , CM000685.1:g.153648590C>A	GRCh37
NC_000023.9:g.153301784C>A	NCBI36
NG_009634.1:g.13714C>A
NG_009634.2:g.13717C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1496C>A
ENST00000698317.1:n.2112C>A
ENST00000698318.1:n.1895C>A
ENST00000698319.1:n.1258C>A
ENST00000698320.1:n.1146C>A
ENST00000470127.2:n.1159C>A
ENST00000475699.6:c.650C>A	ENSP00000419854.3:p.Pro217His
ENST00000483674.3:n.568C>A
ENST00000601016.6:c.686C>A MANE Select	ENSP00000469981.1:p.Pro229His
ENST00000612012.5:c.644C>A	ENSP00000482070.2:p.Pro215His
ENST00000612460.5:c.596C>A	ENSP00000481037.1:p.Pro199His
ENST00000614595.2:n.2033C>A
ENST00000615658.5:n.1275C>A
ENST00000616020.5:c.698C>A	ENSP00000483636.2:p.Pro233His
ENST00000617701.5:c.*699C>A	ENSP00000481645.1:n.*699C>A
ENST00000652354.1:c.368C>A	ENSP00000498734.1:p.Pro123His
ENST00000652358.1:c.479C>A	ENSP00000498464.1:p.Pro160His
ENST00000652390.1:c.605C>A	ENSP00000498858.1:p.Pro202His
ENST00000652476.1:n.1352C>A
ENST00000652644.1:c.299C>A	ENSP00000498496.1:p.Pro100His
ENST00000652682.1:c.743C>A	ENSP00000498288.1:p.Pro248His
ENST00000652685.1:n.1039C>A
ENST00000369776.8:c.596C>A	ENSP00000358791.4:p.Pro199His
ENST00000426231.5:c.683C>A
ENST00000475699.5:c.644C>A	ENSP00000419854.2:p.Pro215His
ENST00000494912.5:n.1375C>A
ENST00000498029.1:n.144C>A
ENST00000601016.5:c.686C>A	ENSP00000469981.1:p.Pro229His
ENST00000612460.4:c.596C>A	ENSP00000481037.1:p.Pro199His
ENST00000613002.4:c.554C>A	ENSP00000478154.1:p.Pro185His
ENST00000615986.4:c.*414C>A	ENSP00000480133.1:n.*414C>A
NM_000116.4:c.686C>A	NP_000107.1:p.Pro229His
NM_001303465.1:c.698C>A	NP_001290394.1:p.Pro233His
NM_181311.3:c.596C>A	NP_851828.1:p.Pro199His
NM_181312.3:c.644C>A	NP_851829.1:p.Pro215His
NM_181313.3:c.554C>A	NP_851830.1:p.Pro185His
NR_024048.2:n.1028C>A
XM_006724836.1:c.740C>A	XP_006724899.1:p.Pro247His
XM_006724837.1:c.725C>A	XP_006724900.1:p.Pro242His
XM_006724839.1:c.608C>A	XP_006724902.1:p.Pro203His
XM_006724841.2:c.479C>A	XP_006724904.1:p.Pro160His
XM_006724842.2:c.389C>A	XP_006724905.1:p.Pro130His
XM_011531189.1:c.527C>A	XP_011529491.1:p.Pro176His
XM_011531190.1:c.479C>A	XP_011529492.1:p.Pro160His
XM_011531191.1:c.410C>A	XP_011529493.1:p.Pro137His
XM_011531192.1:c.407C>A	XP_011529494.1:p.Pro136His
XR_938511.1:n.1034C>A
XM_006724841.4:c.479C>A	XP_006724904.1:p.Pro160His
XM_006724842.4:c.389C>A	XP_006724905.1:p.Pro130His
XM_011531191.2:c.410C>A	XP_011529493.1:p.Pro137His
XM_017029761.1:c.671C>A	XP_016885250.1:p.Pro224His
XM_017029762.1:c.650C>A	XP_016885251.1:p.Pro217His
XM_017029763.1:c.473C>A	XP_016885252.1:p.Pro158His
XM_017029764.1:c.407C>A	XP_016885253.1:p.Pro136His
XM_017029765.2:c.347C>A	XP_016885254.1:p.Pro116His
XM_024452431.1:c.644C>A	XP_024308199.1:p.Pro215His
NM_000116.5:c.686C>A MANE Select	NP_000107.1:p.Pro229His
NM_001303465.2:c.698C>A	NP_001290394.1:p.Pro233His
NM_181311.4:c.596C>A	NP_851828.1:p.Pro199His
NM_181312.4:c.644C>A	NP_851829.1:p.Pro215His
NM_181313.4:c.554C>A	NP_851830.1:p.Pro185His
NR_024048.3:n.1007C>A