Canonical Allele Identifier: CA7888576

Gene: NAGPA

Linked Data

• dbSNP Id: rs759199479
• ExAC: 16:5078039 G / T
• gnomAD v2: 16-5078039-G-T
• gnomAD v4: 16-5028038-G-T
• MyVariant Identifiers: chr16:g.5078039G>T (hg19) ; chr16:g.5028038G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5028038G>T , CM000678.2:g.5028038G>T	GRCh38
NC_000016.9:g.5078039G>T , CM000678.1:g.5078039G>T	GRCh37
NC_000016.8:g.5018040G>T	NCBI36
NG_028152.1:g.10904C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.1068C>A MANE Select	ENSP00000310998.3:p.Gly356=
ENST00000649828.1:c.*240C>A	ENSP00000498032.1:n.*240C>A
ENST00000312251.7:c.1068C>A	ENSP00000310998.3:p.Gly356=
ENST00000381955.7:c.1068C>A	ENSP00000371381.3:p.Gly356=
ENST00000562746.5:c.*240C>A	ENSP00000455900.1:n.*240C>A
ENST00000563578.5:c.738+842C>A
ENST00000564397.5:n.2121C>A
ENST00000565876.5:c.481-659C>A
ENST00000566137.5:n.366C>A
ENST00000567739.5:n.387C>A
ENST00000568202.5:n.931C>A
ENST00000569296.5:c.681C>A	ENSP00000465949.1:n.681C>A
NM_016256.3:c.1068C>A	NP_057340.2:p.Gly356=
XM_011522517.1:c.1068C>A	XP_011520819.1:p.Gly356=
XR_243285.1:n.1164C>A
XM_011522517.3:c.1068C>A	XP_011520819.1:p.Gly356=
XR_001751908.2:n.1163C>A
XR_001751909.2:n.1167C>A
XR_001751910.2:n.1196C>A
XR_001751911.2:n.1196C>A
XR_001751912.2:n.1200C>A
NM_016256.4:c.1068C>A MANE Select	NP_057340.2:p.Gly356=