Canonical Allele Identifier: CA2203660130

Gene: NAGPA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5028922A= , CM000678.2:g.5028922A=	GRCh38
NC_000016.9:g.5078923A= , CM000678.1:g.5078923A=	GRCh37
NC_000016.8:g.5018924A=	NCBI36
NG_028152.1:g.10020T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.878T= MANE Select	ENSP00000310998.3:p.Phe293=
ENST00000649828.1:c.878T=	ENSP00000498032.1:p.Phe293=
ENST00000312251.7:c.878T=	ENSP00000310998.3:p.Phe293=
ENST00000381955.7:c.878T=	ENSP00000371381.3:p.Phe293=
ENST00000562346.2:c.505-737T=
ENST00000562746.5:c.878T=	ENSP00000455900.1:p.Phe293=
ENST00000563578.5:c.696T=
ENST00000564397.5:n.1237T=
ENST00000565876.5:c.480+1463T=
ENST00000567739.5:n.197T=
ENST00000568202.5:n.741T=
ENST00000569296.5:c.422T=	ENSP00000465949.1:p.Phe141=
NM_016256.3:c.878T=	NP_057340.2:p.Phe293=
XM_011522517.1:c.878T=	XP_011520819.1:p.Phe293=
XM_011522518.1:c.878T=	XP_011520820.1:p.Phe293=
XM_011522519.1:c.878T=	XP_011520821.1:p.Phe293=
XR_243285.1:n.905T=
XM_011522517.3:c.878T=	XP_011520819.1:p.Phe293=
XR_001751908.2:n.904T=
XR_001751909.2:n.904T=
XR_001751910.2:n.904T=
XR_001751911.2:n.904T=
XR_001751912.2:n.904T=
NM_016256.4:c.878T= MANE Select	NP_057340.2:p.Phe293=