Canonical Allele Identifier: CA415185118

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648563T>G (hg19) ; chrX:g.154420224T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420224T>G , CM000685.2:g.154420224T>G	GRCh38
NC_000023.10:g.153648563T>G , CM000685.1:g.153648563T>G	GRCh37
NC_000023.9:g.153301757T>G	NCBI36
NG_009634.1:g.13687T>G
NG_009634.2:g.13690T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.1469T>G
ENST00000698317.1:n.2085T>G
ENST00000698318.1:n.1868T>G
ENST00000698319.1:n.1231T>G
ENST00000698320.1:n.1119T>G
ENST00000470127.2:n.1132T>G
ENST00000475699.6:c.623T>G	ENSP00000419854.3:p.Val208Gly
ENST00000483674.3:n.541T>G
ENST00000601016.6:c.659T>G MANE Select	ENSP00000469981.1:p.Val220Gly
ENST00000612012.5:c.617T>G	ENSP00000482070.2:p.Val206Gly
ENST00000612460.5:c.569T>G	ENSP00000481037.1:p.Val190Gly
ENST00000614595.2:n.2006T>G
ENST00000615658.5:n.1248T>G
ENST00000616020.5:c.671T>G	ENSP00000483636.2:p.Val224Gly
ENST00000617701.5:c.*672T>G	ENSP00000481645.1:n.*672T>G
ENST00000652354.1:c.341T>G	ENSP00000498734.1:p.Val114Gly
ENST00000652358.1:c.452T>G	ENSP00000498464.1:p.Val151Gly
ENST00000652390.1:c.578T>G	ENSP00000498858.1:p.Val193Gly
ENST00000652476.1:n.1325T>G
ENST00000652644.1:c.272T>G	ENSP00000498496.1:p.Val91Gly
ENST00000652682.1:c.716T>G	ENSP00000498288.1:p.Val239Gly
ENST00000652685.1:n.1012T>G
ENST00000369776.8:c.569T>G	ENSP00000358791.4:p.Val190Gly
ENST00000426231.5:c.656T>G
ENST00000475699.5:c.617T>G	ENSP00000419854.2:p.Val206Gly
ENST00000494912.5:n.1348T>G
ENST00000498029.1:n.117T>G
ENST00000601016.5:c.659T>G	ENSP00000469981.1:p.Val220Gly
ENST00000612460.4:c.569T>G	ENSP00000481037.1:p.Val190Gly
ENST00000613002.4:c.527T>G	ENSP00000478154.1:p.Val176Gly
ENST00000615986.4:c.*387T>G	ENSP00000480133.1:n.*387T>G
NM_000116.4:c.659T>G	NP_000107.1:p.Val220Gly
NM_001303465.1:c.671T>G	NP_001290394.1:p.Val224Gly
NM_181311.3:c.569T>G	NP_851828.1:p.Val190Gly
NM_181312.3:c.617T>G	NP_851829.1:p.Val206Gly
NM_181313.3:c.527T>G	NP_851830.1:p.Val176Gly
NR_024048.2:n.1001T>G
XM_006724836.1:c.713T>G	XP_006724899.1:p.Val238Gly
XM_006724837.1:c.698T>G	XP_006724900.1:p.Val233Gly
XM_006724839.1:c.581T>G	XP_006724902.1:p.Val194Gly
XM_006724841.2:c.452T>G	XP_006724904.1:p.Val151Gly
XM_006724842.2:c.362T>G	XP_006724905.1:p.Val121Gly
XM_011531189.1:c.500T>G	XP_011529491.1:p.Val167Gly
XM_011531190.1:c.452T>G	XP_011529492.1:p.Val151Gly
XM_011531191.1:c.383T>G	XP_011529493.1:p.Val128Gly
XM_011531192.1:c.380T>G	XP_011529494.1:p.Val127Gly
XR_938511.1:n.1007T>G
XM_006724841.4:c.452T>G	XP_006724904.1:p.Val151Gly
XM_006724842.4:c.362T>G	XP_006724905.1:p.Val121Gly
XM_011531191.2:c.383T>G	XP_011529493.1:p.Val128Gly
XM_017029761.1:c.644T>G	XP_016885250.1:p.Val215Gly
XM_017029762.1:c.623T>G	XP_016885251.1:p.Val208Gly
XM_017029763.1:c.446T>G	XP_016885252.1:p.Val149Gly
XM_017029764.1:c.380T>G	XP_016885253.1:p.Val127Gly
XM_017029765.2:c.320T>G	XP_016885254.1:p.Val107Gly
XM_024452431.1:c.617T>G	XP_024308199.1:p.Val206Gly
NM_000116.5:c.659T>G MANE Select	NP_000107.1:p.Val220Gly
NM_001303465.2:c.671T>G	NP_001290394.1:p.Val224Gly
NM_181311.4:c.569T>G	NP_851828.1:p.Val190Gly
NM_181312.4:c.617T>G	NP_851829.1:p.Val206Gly
NM_181313.4:c.527T>G	NP_851830.1:p.Val176Gly
NR_024048.3:n.980T>G