Canonical Allele Identifier: CA493329452

Gene: NAGPA

Linked Data

• gnomAD v4: 16-5027889-G-T
• MyVariant Identifiers: chr16:g.5077890G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5027889G>T , CM000678.2:g.5027889G>T	GRCh38
NC_000016.9:g.5077890G>T , CM000678.1:g.5077890G>T	GRCh37
NC_000016.8:g.5017891G>T	NCBI36
NG_028152.1:g.11053C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.1131C>A MANE Select	ENSP00000310998.3:p.Gly377=
ENST00000649828.1:c.*303C>A	ENSP00000498032.1:n.*303C>A
ENST00000312251.7:c.1131C>A	ENSP00000310998.3:p.Gly377=
ENST00000381955.7:c.1131C>A	ENSP00000371381.3:p.Gly377=
ENST00000562746.5:c.*303C>A	ENSP00000455900.1:n.*303C>A
ENST00000563578.5:c.738+991C>A
ENST00000564397.5:n.2184C>A
ENST00000565876.5:c.481-510C>A
ENST00000566137.5:n.429C>A
ENST00000567739.5:n.450C>A
ENST00000568202.5:n.994C>A
ENST00000569296.5:c.744C>A	ENSP00000465949.1:n.744C>A
NM_016256.3:c.1131C>A	NP_057340.2:p.Gly377=
XM_011522517.1:c.1131C>A	XP_011520819.1:p.Gly377=
XR_243285.1:n.1227C>A
XM_011522517.3:c.1131C>A	XP_011520819.1:p.Gly377=
XR_001751908.2:n.1226C>A
XR_001751909.2:n.1230C>A
XR_001751910.2:n.1259C>A
XR_001751911.2:n.1259C>A
XR_001751912.2:n.1263C>A
NM_016256.4:c.1131C>A MANE Select	NP_057340.2:p.Gly377=