Canonical Allele Identifier: CA519278032

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648417G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420078G>T , CM000685.2:g.154420078G>T	GRCh38
NC_000023.10:g.153648417G>T , CM000685.1:g.153648417G>T	GRCh37
NC_000023.9:g.153301611G>T	NCBI36
NG_009634.1:g.13541G>T
NG_009634.2:g.13544G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1440G>T
ENST00000698317.1:n.2056G>T
ENST00000698318.1:n.1839G>T
ENST00000698319.1:n.1202G>T
ENST00000698320.1:n.1090G>T
ENST00000470127.2:n.1103G>T
ENST00000475699.6:c.594G>T	ENSP00000419854.3:p.Leu198=
ENST00000483674.3:n.512G>T
ENST00000601016.6:c.630G>T MANE Select	ENSP00000469981.1:p.Leu210=
ENST00000612012.5:c.588G>T	ENSP00000482070.2:p.Leu196=
ENST00000612460.5:c.540G>T	ENSP00000481037.1:p.Leu180=
ENST00000614595.2:n.1977G>T
ENST00000615658.5:n.1219G>T
ENST00000616020.5:c.642G>T	ENSP00000483636.2:p.Leu214=
ENST00000617701.5:c.*643G>T	ENSP00000481645.1:n.*643G>T
ENST00000652354.1:c.312G>T	ENSP00000498734.1:p.Leu104=
ENST00000652358.1:c.423G>T	ENSP00000498464.1:p.Leu141=
ENST00000652390.1:c.549G>T	ENSP00000498858.1:p.Leu183=
ENST00000652476.1:n.1296G>T
ENST00000652644.1:c.243G>T	ENSP00000498496.1:p.Leu81=
ENST00000652682.1:c.687G>T	ENSP00000498288.1:p.Leu229=
ENST00000652685.1:n.983G>T
ENST00000369776.8:c.423G>T	ENSP00000358791.4:p.Leu141=
ENST00000426231.5:c.627G>T
ENST00000439735.2:c.537G>T	ENSP00000398193.1:p.Leu179=
ENST00000470127.1:n.209G>T
ENST00000475699.5:c.588G>T	ENSP00000419854.2:p.Leu196=
ENST00000494912.5:n.1319G>T
ENST00000498029.1:n.88G>T
ENST00000601016.5:c.630G>T	ENSP00000469981.1:p.Leu210=
ENST00000612460.4:c.540G>T	ENSP00000481037.1:p.Leu180=
ENST00000613002.4:c.498G>T	ENSP00000478154.1:p.Leu166=
ENST00000615658.4:n.1319G>T
ENST00000615986.4:c.*358G>T	ENSP00000480133.1:n.*358G>T
NM_000116.4:c.630G>T	NP_000107.1:p.Leu210=
NM_001303465.1:c.642G>T	NP_001290394.1:p.Leu214=
NM_181311.3:c.540G>T	NP_851828.1:p.Leu180=
NM_181312.3:c.588G>T	NP_851829.1:p.Leu196=
NM_181313.3:c.498G>T	NP_851830.1:p.Leu166=
NR_024048.2:n.972G>T
XM_006724836.1:c.684G>T	XP_006724899.1:p.Leu228=
XM_006724837.1:c.552G>T	XP_006724900.1:p.Leu184=
XM_006724839.1:c.552G>T	XP_006724902.1:p.Leu184=
XM_006724841.2:c.423G>T	XP_006724904.1:p.Leu141=
XM_006724842.2:c.333G>T	XP_006724905.1:p.Leu111=
XM_011531189.1:c.471G>T	XP_011529491.1:p.Leu157=
XM_011531190.1:c.423G>T	XP_011529492.1:p.Leu141=
XM_011531191.1:c.354G>T	XP_011529493.1:p.Leu118=
XM_011531192.1:c.351G>T	XP_011529494.1:p.Leu117=
XR_938511.1:n.978G>T
XM_006724841.4:c.423G>T	XP_006724904.1:p.Leu141=
XM_006724842.4:c.333G>T	XP_006724905.1:p.Leu111=
XM_011531191.2:c.354G>T	XP_011529493.1:p.Leu118=
XM_017029761.1:c.498G>T	XP_016885250.1:p.Leu166=
XM_017029762.1:c.594G>T	XP_016885251.1:p.Leu198=
XM_017029763.1:c.417G>T	XP_016885252.1:p.Leu139=
XM_017029764.1:c.351G>T	XP_016885253.1:p.Leu117=
XM_017029765.2:c.291G>T	XP_016885254.1:p.Leu97=
XM_024452431.1:c.471G>T	XP_024308199.1:p.Leu157=
NM_000116.5:c.630G>T MANE Select	NP_000107.1:p.Leu210=
NM_001303465.2:c.642G>T	NP_001290394.1:p.Leu214=
NM_181311.4:c.540G>T	NP_851828.1:p.Leu180=
NM_181312.4:c.588G>T	NP_851829.1:p.Leu196=
NM_181313.4:c.498G>T	NP_851830.1:p.Leu166=
NR_024048.3:n.951G>T