Canonical Allele Identifier: CA7888514

Gene: NAGPA

Linked Data

• dbSNP Id: rs760501750
• ExAC: 16:5077860 G / C
• gnomAD v2: 16-5077860-G-C
• MyVariant Identifiers: chr16:g.5077860G>C (hg19) ; chr16:g.5027859G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5027859G>C , CM000678.2:g.5027859G>C	GRCh38
NC_000016.9:g.5077860G>C , CM000678.1:g.5077860G>C	GRCh37
NC_000016.8:g.5017861G>C	NCBI36
NG_028152.1:g.11083C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.1161C>G MANE Select	ENSP00000310998.3:p.Ser387=
ENST00000649828.1:c.*333C>G	ENSP00000498032.1:n.*333C>G
ENST00000312251.7:c.1161C>G	ENSP00000310998.3:p.Ser387=
ENST00000381955.7:c.1161C>G	ENSP00000371381.3:p.Ser387=
ENST00000562746.5:c.*333C>G	ENSP00000455900.1:n.*333C>G
ENST00000563578.5:c.738+1021C>G
ENST00000564397.5:n.2214C>G
ENST00000565876.5:c.481-480C>G
ENST00000566137.5:n.459C>G
ENST00000567739.5:n.480C>G
ENST00000568202.5:n.1024C>G
ENST00000569296.5:c.774C>G	ENSP00000465949.1:n.774C>G
NM_016256.3:c.1161C>G	NP_057340.2:p.Ser387=
XM_011522517.1:c.1161C>G	XP_011520819.1:p.Ser387=
XR_243285.1:n.1257C>G
XM_011522517.3:c.1161C>G	XP_011520819.1:p.Ser387=
XR_001751908.2:n.1256C>G
XR_001751909.2:n.1260C>G
XR_001751910.2:n.1289C>G
XR_001751911.2:n.1289C>G
XR_001751912.2:n.1293C>G
NM_016256.4:c.1161C>G MANE Select	NP_057340.2:p.Ser387=