Canonical Allele Identifier: CA415184396

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648425G>A (hg19) ; chrX:g.154420086G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420086G>A , CM000685.2:g.154420086G>A	GRCh38
NC_000023.10:g.153648425G>A , CM000685.1:g.153648425G>A	GRCh37
NC_000023.9:g.153301619G>A	NCBI36
NG_009634.1:g.13549G>A
NG_009634.2:g.13552G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1448G>A
ENST00000698317.1:n.2064G>A
ENST00000698318.1:n.1847G>A
ENST00000698319.1:n.1210G>A
ENST00000698320.1:n.1098G>A
ENST00000470127.2:n.1111G>A
ENST00000475699.6:c.602G>A	ENSP00000419854.3:p.Trp201Ter
ENST00000483674.3:n.520G>A
ENST00000601016.6:c.638G>A MANE Select	ENSP00000469981.1:p.Trp213Ter
ENST00000612012.5:c.596G>A	ENSP00000482070.2:p.Trp199Ter
ENST00000612460.5:c.548G>A	ENSP00000481037.1:p.Trp183Ter
ENST00000614595.2:n.1985G>A
ENST00000615658.5:n.1227G>A
ENST00000616020.5:c.650G>A	ENSP00000483636.2:p.Trp217Ter
ENST00000617701.5:c.*651G>A	ENSP00000481645.1:n.*651G>A
ENST00000652354.1:c.320G>A	ENSP00000498734.1:p.Trp107Ter
ENST00000652358.1:c.431G>A	ENSP00000498464.1:p.Trp144Ter
ENST00000652390.1:c.557G>A	ENSP00000498858.1:p.Trp186Ter
ENST00000652476.1:n.1304G>A
ENST00000652644.1:c.251G>A	ENSP00000498496.1:p.Trp84Ter
ENST00000652682.1:c.695G>A	ENSP00000498288.1:p.Trp232Ter
ENST00000652685.1:n.991G>A
ENST00000369776.8:c.431G>A	ENSP00000358791.4:p.Trp144Ter
ENST00000426231.5:c.635G>A
ENST00000439735.2:c.545G>A	ENSP00000398193.1:p.Trp182Ter
ENST00000470127.1:n.217G>A
ENST00000475699.5:c.596G>A	ENSP00000419854.2:p.Trp199Ter
ENST00000494912.5:n.1327G>A
ENST00000498029.1:n.96G>A
ENST00000601016.5:c.638G>A	ENSP00000469981.1:p.Trp213Ter
ENST00000612460.4:c.548G>A	ENSP00000481037.1:p.Trp183Ter
ENST00000613002.4:c.506G>A	ENSP00000478154.1:p.Trp169Ter
ENST00000615986.4:c.*366G>A	ENSP00000480133.1:n.*366G>A
NM_000116.4:c.638G>A	NP_000107.1:p.Trp213Ter
NM_001303465.1:c.650G>A	NP_001290394.1:p.Trp217Ter
NM_181311.3:c.548G>A	NP_851828.1:p.Trp183Ter
NM_181312.3:c.596G>A	NP_851829.1:p.Trp199Ter
NM_181313.3:c.506G>A	NP_851830.1:p.Trp169Ter
NR_024048.2:n.980G>A
XM_006724836.1:c.692G>A	XP_006724899.1:p.Trp231Ter
XM_006724837.1:c.560G>A	XP_006724900.1:p.Trp187Ter
XM_006724839.1:c.560G>A	XP_006724902.1:p.Trp187Ter
XM_006724841.2:c.431G>A	XP_006724904.1:p.Trp144Ter
XM_006724842.2:c.341G>A	XP_006724905.1:p.Trp114Ter
XM_011531189.1:c.479G>A	XP_011529491.1:p.Trp160Ter
XM_011531190.1:c.431G>A	XP_011529492.1:p.Trp144Ter
XM_011531191.1:c.362G>A	XP_011529493.1:p.Trp121Ter
XM_011531192.1:c.359G>A	XP_011529494.1:p.Trp120Ter
XR_938511.1:n.986G>A
XM_006724841.4:c.431G>A	XP_006724904.1:p.Trp144Ter
XM_006724842.4:c.341G>A	XP_006724905.1:p.Trp114Ter
XM_011531191.2:c.362G>A	XP_011529493.1:p.Trp121Ter
XM_017029761.1:c.506G>A	XP_016885250.1:p.Trp169Ter
XM_017029762.1:c.602G>A	XP_016885251.1:p.Trp201Ter
XM_017029763.1:c.425G>A	XP_016885252.1:p.Trp142Ter
XM_017029764.1:c.359G>A	XP_016885253.1:p.Trp120Ter
XM_017029765.2:c.299G>A	XP_016885254.1:p.Trp100Ter
XM_024452431.1:c.479G>A	XP_024308199.1:p.Trp160Ter
NM_000116.5:c.638G>A MANE Select	NP_000107.1:p.Trp213Ter
NM_001303465.2:c.650G>A	NP_001290394.1:p.Trp217Ter
NM_181311.4:c.548G>A	NP_851828.1:p.Trp183Ter
NM_181312.4:c.596G>A	NP_851829.1:p.Trp199Ter
NM_181313.4:c.506G>A	NP_851830.1:p.Trp169Ter
NR_024048.3:n.959G>A