Canonical Allele Identifier: CA394660027

Gene: NAGPA

Linked Data

• dbSNP Id: rs1260140603
• gnomAD v2: 16-5077852-C-T
• gnomAD v4: 16-5027851-C-T
• MyVariant Identifiers: chr16:g.5077852C>T (hg19) ; chr16:g.5027851C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5027851C>T , CM000678.2:g.5027851C>T	GRCh38
NC_000016.9:g.5077852C>T , CM000678.1:g.5077852C>T	GRCh37
NC_000016.8:g.5017853C>T	NCBI36
NG_028152.1:g.11091G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.1169G>A MANE Select	ENSP00000310998.3:p.Ser390Asn
ENST00000649828.1:c.*341G>A	ENSP00000498032.1:n.*341G>A
ENST00000312251.7:c.1169G>A	ENSP00000310998.3:p.Ser390Asn
ENST00000381955.7:c.1169G>A	ENSP00000371381.3:p.Ser390Asn
ENST00000562746.5:c.*341G>A	ENSP00000455900.1:n.*341G>A
ENST00000563578.5:c.738+1029G>A
ENST00000564397.5:n.2222G>A
ENST00000565876.5:c.481-472G>A
ENST00000566137.5:n.467G>A
ENST00000567739.5:n.488G>A
ENST00000568202.5:n.1032G>A
ENST00000569296.5:c.782G>A	ENSP00000465949.1:n.782G>A
NM_016256.3:c.1169G>A	NP_057340.2:p.Ser390Asn
XM_011522517.1:c.1169G>A	XP_011520819.1:p.Ser390Asn
XR_243285.1:n.1265G>A
XM_011522517.3:c.1169G>A	XP_011520819.1:p.Ser390Asn
XR_001751908.2:n.1264G>A
XR_001751909.2:n.1268G>A
XR_001751910.2:n.1297G>A
XR_001751911.2:n.1297G>A
XR_001751912.2:n.1301G>A
NM_016256.4:c.1169G>A MANE Select	NP_057340.2:p.Ser390Asn