Canonical Allele Identifier: CA2072620936

Gene: PUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941355A= , CM000674.2:g.131941355A=	GRCh38
NC_000012.11:g.132425900A= , CM000674.1:g.132425900A=	GRCh37
NC_000012.10:g.130991853A=	NCBI36
NG_013039.1:g.17156A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.608A= MANE Select	ENSP00000365837.3:p.Tyr203=
ENST00000322060.9:c.524A=	ENSP00000324726.5:p.Tyr175=
ENST00000376649.7:c.608A=	ENSP00000365837.3:p.Tyr203=
ENST00000443358.6:c.524A=	ENSP00000392451.2:p.Tyr175=
ENST00000535067.5:c.358-2184A=	ENSP00000443969.1:n.358-2184A=
ENST00000537484.1:c.533A=	ENSP00000440179.1:p.Tyr178=
ENST00000542167.2:c.449A=	ENSP00000438948.1:p.Tyr150=
ENST00000543754.1:n.429A=
NM_001002019.2:c.524A=	NP_001002019.1:p.Tyr175=
NM_001002020.2:c.524A=	NP_001002020.1:p.Tyr175=
NM_025215.5:c.608A=	NP_079491.2:p.Tyr203=
XM_011538768.1:c.209A=	XP_011537070.1:p.Tyr70=
XM_011538768.3:c.209A=	XP_011537070.1:p.Tyr70=
XR_001748872.1:n.1063A=
NM_001002019.3:c.524A=	NP_001002019.1:p.Tyr175=
NM_001002020.3:c.524A=	NP_001002020.1:p.Tyr175=
NM_025215.6:c.608A= MANE Select	NP_079491.2:p.Tyr203=