Canonical Allele Identifier: CA2203660242

Gene: NAGPA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5028988G= , CM000678.2:g.5028988G=	GRCh38
NC_000016.9:g.5078989G= , CM000678.1:g.5078989G=	GRCh37
NC_000016.8:g.5018990G=	NCBI36
NG_028152.1:g.9954C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.812C= MANE Select	ENSP00000310998.3:p.Ala271=
ENST00000649828.1:c.812C=	ENSP00000498032.1:p.Ala271=
ENST00000312251.7:c.812C=	ENSP00000310998.3:p.Ala271=
ENST00000381955.7:c.812C=	ENSP00000371381.3:p.Ala271=
ENST00000562037.1:c.573C=	ENSP00000464994.1:n.573C=
ENST00000562346.2:c.505-803C=
ENST00000562746.5:c.812C=	ENSP00000455900.1:p.Ala271=
ENST00000563578.5:c.630C=
ENST00000564397.5:n.1171C=
ENST00000565876.5:c.480+1397C=
ENST00000567739.5:n.131C=
ENST00000568202.5:n.675C=
ENST00000569296.5:c.356C=	ENSP00000465949.1:p.Ala119=
NM_016256.3:c.812C=	NP_057340.2:p.Ala271=
XM_011522517.1:c.812C=	XP_011520819.1:p.Ala271=
XM_011522518.1:c.812C=	XP_011520820.1:p.Ala271=
XM_011522519.1:c.812C=	XP_011520821.1:p.Ala271=
XR_243285.1:n.839C=
XM_011522517.3:c.812C=	XP_011520819.1:p.Ala271=
XR_001751908.2:n.838C=
XR_001751909.2:n.838C=
XR_001751910.2:n.838C=
XR_001751911.2:n.838C=
XR_001751912.2:n.838C=
NM_016256.4:c.812C= MANE Select	NP_057340.2:p.Ala271=