Canonical Allele Identifier: CA415185128

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648566T>A (hg19) ; chrX:g.154420227T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420227T>A , CM000685.2:g.154420227T>A	GRCh38
NC_000023.10:g.153648566T>A , CM000685.1:g.153648566T>A	GRCh37
NC_000023.9:g.153301760T>A	NCBI36
NG_009634.1:g.13690T>A
NG_009634.2:g.13693T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.1472T>A
ENST00000698317.1:n.2088T>A
ENST00000698318.1:n.1871T>A
ENST00000698319.1:n.1234T>A
ENST00000698320.1:n.1122T>A
ENST00000470127.2:n.1135T>A
ENST00000475699.6:c.626T>A	ENSP00000419854.3:p.Leu209His
ENST00000483674.3:n.544T>A
ENST00000601016.6:c.662T>A MANE Select	ENSP00000469981.1:p.Leu221His
ENST00000612012.5:c.620T>A	ENSP00000482070.2:p.Leu207His
ENST00000612460.5:c.572T>A	ENSP00000481037.1:p.Leu191His
ENST00000614595.2:n.2009T>A
ENST00000615658.5:n.1251T>A
ENST00000616020.5:c.674T>A	ENSP00000483636.2:p.Leu225His
ENST00000617701.5:c.*675T>A	ENSP00000481645.1:n.*675T>A
ENST00000652354.1:c.344T>A	ENSP00000498734.1:p.Leu115His
ENST00000652358.1:c.455T>A	ENSP00000498464.1:p.Leu152His
ENST00000652390.1:c.581T>A	ENSP00000498858.1:p.Leu194His
ENST00000652476.1:n.1328T>A
ENST00000652644.1:c.275T>A	ENSP00000498496.1:p.Leu92His
ENST00000652682.1:c.719T>A	ENSP00000498288.1:p.Leu240His
ENST00000652685.1:n.1015T>A
ENST00000369776.8:c.572T>A	ENSP00000358791.4:p.Leu191His
ENST00000426231.5:c.659T>A
ENST00000475699.5:c.620T>A	ENSP00000419854.2:p.Leu207His
ENST00000494912.5:n.1351T>A
ENST00000498029.1:n.120T>A
ENST00000601016.5:c.662T>A	ENSP00000469981.1:p.Leu221His
ENST00000612460.4:c.572T>A	ENSP00000481037.1:p.Leu191His
ENST00000613002.4:c.530T>A	ENSP00000478154.1:p.Leu177His
ENST00000615986.4:c.*390T>A	ENSP00000480133.1:n.*390T>A
NM_000116.4:c.662T>A	NP_000107.1:p.Leu221His
NM_001303465.1:c.674T>A	NP_001290394.1:p.Leu225His
NM_181311.3:c.572T>A	NP_851828.1:p.Leu191His
NM_181312.3:c.620T>A	NP_851829.1:p.Leu207His
NM_181313.3:c.530T>A	NP_851830.1:p.Leu177His
NR_024048.2:n.1004T>A
XM_006724836.1:c.716T>A	XP_006724899.1:p.Leu239His
XM_006724837.1:c.701T>A	XP_006724900.1:p.Leu234His
XM_006724839.1:c.584T>A	XP_006724902.1:p.Leu195His
XM_006724841.2:c.455T>A	XP_006724904.1:p.Leu152His
XM_006724842.2:c.365T>A	XP_006724905.1:p.Leu122His
XM_011531189.1:c.503T>A	XP_011529491.1:p.Leu168His
XM_011531190.1:c.455T>A	XP_011529492.1:p.Leu152His
XM_011531191.1:c.386T>A	XP_011529493.1:p.Leu129His
XM_011531192.1:c.383T>A	XP_011529494.1:p.Leu128His
XR_938511.1:n.1010T>A
XM_006724841.4:c.455T>A	XP_006724904.1:p.Leu152His
XM_006724842.4:c.365T>A	XP_006724905.1:p.Leu122His
XM_011531191.2:c.386T>A	XP_011529493.1:p.Leu129His
XM_017029761.1:c.647T>A	XP_016885250.1:p.Leu216His
XM_017029762.1:c.626T>A	XP_016885251.1:p.Leu209His
XM_017029763.1:c.449T>A	XP_016885252.1:p.Leu150His
XM_017029764.1:c.383T>A	XP_016885253.1:p.Leu128His
XM_017029765.2:c.323T>A	XP_016885254.1:p.Leu108His
XM_024452431.1:c.620T>A	XP_024308199.1:p.Leu207His
NM_000116.5:c.662T>A MANE Select	NP_000107.1:p.Leu221His
NM_001303465.2:c.674T>A	NP_001290394.1:p.Leu225His
NM_181311.4:c.572T>A	NP_851828.1:p.Leu191His
NM_181312.4:c.620T>A	NP_851829.1:p.Leu207His
NM_181313.4:c.530T>A	NP_851830.1:p.Leu177His
NR_024048.3:n.983T>A