Canonical Allele Identifier: CA415185393

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649022C>A (hg19) ; chrX:g.154420683C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420683C>A , CM000685.2:g.154420683C>A	GRCh38
NC_000023.10:g.153649022C>A , CM000685.1:g.153649022C>A	GRCh37
NC_000023.9:g.153302216C>A	NCBI36
NG_009634.1:g.14146C>A
NG_009634.2:g.14149C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1535C>A
ENST00000698317.1:n.2151C>A
ENST00000698318.1:n.1934C>A
ENST00000698319.1:n.1297C>A
ENST00000698320.1:n.1185C>A
ENST00000470127.2:n.1198C>A
ENST00000475699.6:c.689C>A	ENSP00000419854.3:p.Pro230His
ENST00000483674.3:n.607C>A
ENST00000601016.6:c.725C>A MANE Select	ENSP00000469981.1:p.Pro242His
ENST00000612012.5:c.683C>A	ENSP00000482070.2:p.Pro228His
ENST00000612460.5:c.635C>A	ENSP00000481037.1:p.Pro212His
ENST00000614595.2:n.2072C>A
ENST00000615658.5:n.1314C>A
ENST00000616020.5:c.737C>A	ENSP00000483636.2:p.Pro246His
ENST00000617701.5:c.*738C>A	ENSP00000481645.1:n.*738C>A
ENST00000651139.1:c.-59C>A	ENSP00000498957.1:n.-59C>A
ENST00000652354.1:c.407C>A	ENSP00000498734.1:p.Pro136His
ENST00000652358.1:c.518C>A	ENSP00000498464.1:p.Pro173His
ENST00000652390.1:c.644C>A	ENSP00000498858.1:p.Pro215His
ENST00000652476.1:n.1391C>A
ENST00000652644.1:c.338C>A	ENSP00000498496.1:p.Pro113His
ENST00000652682.1:c.782C>A	ENSP00000498288.1:p.Pro261His
ENST00000652685.1:n.1078C>A
ENST00000369776.8:c.635C>A	ENSP00000358791.4:p.Pro212His
ENST00000426231.5:c.722C>A
ENST00000475699.5:c.683C>A	ENSP00000419854.2:p.Pro228His
ENST00000494912.5:n.1414C>A
ENST00000498029.1:n.183C>A
ENST00000601016.5:c.725C>A	ENSP00000469981.1:p.Pro242His
ENST00000612460.4:c.635C>A	ENSP00000481037.1:p.Pro212His
ENST00000613002.4:c.593C>A	ENSP00000478154.1:p.Pro198His
ENST00000615986.4:c.*453C>A	ENSP00000480133.1:n.*453C>A
NM_000116.4:c.725C>A	NP_000107.1:p.Pro242His
NM_001303465.1:c.737C>A	NP_001290394.1:p.Pro246His
NM_181311.3:c.635C>A	NP_851828.1:p.Pro212His
NM_181312.3:c.683C>A	NP_851829.1:p.Pro228His
NM_181313.3:c.593C>A	NP_851830.1:p.Pro198His
NR_024048.2:n.1067C>A
XM_006724836.1:c.779C>A	XP_006724899.1:p.Pro260His
XM_006724837.1:c.764C>A	XP_006724900.1:p.Pro255His
XM_006724839.1:c.647C>A	XP_006724902.1:p.Pro216His
XM_006724841.2:c.518C>A	XP_006724904.1:p.Pro173His
XM_006724842.2:c.428C>A	XP_006724905.1:p.Pro143His
XM_011531189.1:c.566C>A	XP_011529491.1:p.Pro189His
XM_011531190.1:c.518C>A	XP_011529492.1:p.Pro173His
XM_011531191.1:c.449C>A	XP_011529493.1:p.Pro150His
XM_011531192.1:c.446C>A	XP_011529494.1:p.Pro149His
XR_938511.1:n.1073C>A
XM_006724841.4:c.518C>A	XP_006724904.1:p.Pro173His
XM_006724842.4:c.428C>A	XP_006724905.1:p.Pro143His
XM_011531191.2:c.449C>A	XP_011529493.1:p.Pro150His
XM_017029761.1:c.710C>A	XP_016885250.1:p.Pro237His
XM_017029762.1:c.689C>A	XP_016885251.1:p.Pro230His
XM_017029763.1:c.512C>A	XP_016885252.1:p.Pro171His
XM_017029764.1:c.446C>A	XP_016885253.1:p.Pro149His
XM_017029765.2:c.386C>A	XP_016885254.1:p.Pro129His
XM_024452431.1:c.683C>A	XP_024308199.1:p.Pro228His
NM_000116.5:c.725C>A MANE Select	NP_000107.1:p.Pro242His
NM_001303465.2:c.737C>A	NP_001290394.1:p.Pro246His
NM_181311.4:c.635C>A	NP_851828.1:p.Pro212His
NM_181312.4:c.683C>A	NP_851829.1:p.Pro228His
NM_181313.4:c.593C>A	NP_851830.1:p.Pro198His
NR_024048.3:n.1046C>A