Canonical Allele Identifier: CA415184401

Gene: TAFAZZIN

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1448G>T
ENST00000698317.1:n.2064G>T
ENST00000698318.1:n.1847G>T
ENST00000698319.1:n.1210G>T
ENST00000698320.1:n.1098G>T
ENST00000470127.2:n.1111G>T
ENST00000475699.6:c.602G>T	ENSP00000419854.3:p.Trp201Leu
ENST00000483674.3:n.520G>T
ENST00000601016.6:c.638G>T MANE Select	ENSP00000469981.1:p.Trp213Leu
ENST00000612012.5:c.596G>T	ENSP00000482070.2:p.Trp199Leu
ENST00000612460.5:c.548G>T	ENSP00000481037.1:p.Trp183Leu
ENST00000614595.2:n.1985G>T
ENST00000615658.5:n.1227G>T
ENST00000616020.5:c.650G>T	ENSP00000483636.2:p.Trp217Leu
ENST00000617701.5:c.*651G>T	ENSP00000481645.1:n.*651G>T
ENST00000652354.1:c.320G>T	ENSP00000498734.1:p.Trp107Leu
ENST00000652358.1:c.431G>T	ENSP00000498464.1:p.Trp144Leu
ENST00000652390.1:c.557G>T	ENSP00000498858.1:p.Trp186Leu
ENST00000652476.1:n.1304G>T
ENST00000652644.1:c.251G>T	ENSP00000498496.1:p.Trp84Leu
ENST00000652682.1:c.695G>T	ENSP00000498288.1:p.Trp232Leu
ENST00000652685.1:n.991G>T
ENST00000369776.8:c.431G>T	ENSP00000358791.4:p.Trp144Leu
ENST00000426231.5:c.635G>T
ENST00000439735.2:c.545G>T	ENSP00000398193.1:p.Trp182Leu
ENST00000470127.1:n.217G>T
ENST00000475699.5:c.596G>T	ENSP00000419854.2:p.Trp199Leu
ENST00000494912.5:n.1327G>T
ENST00000498029.1:n.96G>T
ENST00000601016.5:c.638G>T	ENSP00000469981.1:p.Trp213Leu
ENST00000612460.4:c.548G>T	ENSP00000481037.1:p.Trp183Leu
ENST00000613002.4:c.506G>T	ENSP00000478154.1:p.Trp169Leu
ENST00000615986.4:c.*366G>T	ENSP00000480133.1:n.*366G>T
NM_000116.4:c.638G>T	NP_000107.1:p.Trp213Leu
NM_001303465.1:c.650G>T	NP_001290394.1:p.Trp217Leu
NM_181311.3:c.548G>T	NP_851828.1:p.Trp183Leu
NM_181312.3:c.596G>T	NP_851829.1:p.Trp199Leu
NM_181313.3:c.506G>T	NP_851830.1:p.Trp169Leu
NR_024048.2:n.980G>T
XM_006724836.1:c.692G>T	XP_006724899.1:p.Trp231Leu
XM_006724837.1:c.560G>T	XP_006724900.1:p.Trp187Leu
XM_006724839.1:c.560G>T	XP_006724902.1:p.Trp187Leu
XM_006724841.2:c.431G>T	XP_006724904.1:p.Trp144Leu
XM_006724842.2:c.341G>T	XP_006724905.1:p.Trp114Leu
XM_011531189.1:c.479G>T	XP_011529491.1:p.Trp160Leu
XM_011531190.1:c.431G>T	XP_011529492.1:p.Trp144Leu
XM_011531191.1:c.362G>T	XP_011529493.1:p.Trp121Leu
XM_011531192.1:c.359G>T	XP_011529494.1:p.Trp120Leu
XR_938511.1:n.986G>T
XM_006724841.4:c.431G>T	XP_006724904.1:p.Trp144Leu
XM_006724842.4:c.341G>T	XP_006724905.1:p.Trp114Leu
XM_011531191.2:c.362G>T	XP_011529493.1:p.Trp121Leu
XM_017029761.1:c.506G>T	XP_016885250.1:p.Trp169Leu
XM_017029762.1:c.602G>T	XP_016885251.1:p.Trp201Leu
XM_017029763.1:c.425G>T	XP_016885252.1:p.Trp142Leu
XM_017029764.1:c.359G>T	XP_016885253.1:p.Trp120Leu
XM_017029765.2:c.299G>T	XP_016885254.1:p.Trp100Leu
XM_024452431.1:c.479G>T	XP_024308199.1:p.Trp160Leu
NM_000116.5:c.638G>T MANE Select	NP_000107.1:p.Trp213Leu
NM_001303465.2:c.650G>T	NP_001290394.1:p.Trp217Leu
NM_181311.4:c.548G>T	NP_851828.1:p.Trp183Leu
NM_181312.4:c.596G>T	NP_851829.1:p.Trp199Leu
NM_181313.4:c.506G>T	NP_851830.1:p.Trp169Leu
NR_024048.3:n.959G>T