Canonical Allele Identifier: CA2203674010

Gene: NAGPA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5027997T= , CM000678.2:g.5027997T=	GRCh38
NC_000016.9:g.5077998T= , CM000678.1:g.5077998T=	GRCh37
NC_000016.8:g.5017999T=	NCBI36
NG_028152.1:g.10945A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.1109A= MANE Select	ENSP00000310998.3:p.His370=
ENST00000649828.1:c.*281A=	ENSP00000498032.1:n.*281A=
ENST00000312251.7:c.1109A=	ENSP00000310998.3:p.His370=
ENST00000381955.7:c.1109A=	ENSP00000371381.3:p.His370=
ENST00000562746.5:c.*281A=	ENSP00000455900.1:n.*281A=
ENST00000563578.5:c.738+883A=
ENST00000564397.5:n.2162A=
ENST00000565876.5:c.481-618A=
ENST00000566137.5:n.407A=
ENST00000567739.5:n.428A=
ENST00000568202.5:n.972A=
ENST00000569296.5:c.722A=	ENSP00000465949.1:n.722A=
NM_016256.3:c.1109A=	NP_057340.2:p.His370=
XM_011522517.1:c.1109A=	XP_011520819.1:p.His370=
XR_243285.1:n.1205A=
XM_011522517.3:c.1109A=	XP_011520819.1:p.His370=
XR_001751908.2:n.1204A=
XR_001751909.2:n.1208A=
XR_001751910.2:n.1237A=
XR_001751911.2:n.1237A=
XR_001751912.2:n.1241A=
NM_016256.4:c.1109A= MANE Select	NP_057340.2:p.His370=