Canonical Allele Identifier: CA2203674212

Gene: NAGPA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5028124G= , CM000678.2:g.5028124G=	GRCh38
NC_000016.9:g.5078125G= , CM000678.1:g.5078125G=	GRCh37
NC_000016.8:g.5018126G=	NCBI36
NG_028152.1:g.10818C=

Transcript Alleles

HGVS	Amino-acid Change
NM_016256.4:c.982C= MANE Select	NP_057340.2:p.Arg328=
ENST00000312251.8:c.982C= MANE Select	ENSP00000310998.3:p.Arg328=
NM_016256.3:c.982C=	NP_057340.2:p.Arg328=
ENST00000312251.7:c.982C=	ENSP00000310998.3:p.Arg328=
ENST00000381955.7:c.982C=	ENSP00000371381.3:p.Arg328=
ENST00000562346.2:c.566C=
ENST00000562746.5:c.*154C=	ENSP00000455900.1:n.*154C=
ENST00000563578.5:c.738+756C=
ENST00000564397.5:n.2035C=
ENST00000565876.5:c.481-745C=
ENST00000566137.5:n.280C=
ENST00000567739.5:n.301C=
ENST00000568202.5:n.845C=
ENST00000568528.1:n.491C=
ENST00000569296.5:c.595C=	ENSP00000465949.1:n.595C=
ENST00000649828.1:c.*154C=	ENSP00000498032.1:n.*154C=
XM_011522517.1:c.982C=	XP_011520819.1:p.Arg328=
XM_011522517.3:c.982C=	XP_011520819.1:p.Arg328=
XM_011522518.1:c.*80C=	XP_011520820.1:n.*80C=
XR_001751908.2:n.1077C=
XR_001751909.2:n.1081C=
XR_001751910.2:n.1110C=
XR_001751911.2:n.1110C=
XR_001751912.2:n.1114C=
XR_243285.1:n.1078C=