Canonical Allele Identifier: CA7888697

Gene: NAGPA

Linked Data

• dbSNP Id: rs750850261
• ExAC: 16:5078998 C / G
• gnomAD v2: 16-5078998-C-G
• gnomAD v4: 16-5028997-C-G
• MyVariant Identifiers: chr16:g.5078998C>G (hg19) ; chr16:g.5028997C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5028997C>G , CM000678.2:g.5028997C>G	GRCh38
NC_000016.9:g.5078998C>G , CM000678.1:g.5078998C>G	GRCh37
NC_000016.8:g.5018999C>G	NCBI36
NG_028152.1:g.9945G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.803G>C MANE Select	ENSP00000310998.3:p.Trp268Ser
ENST00000649828.1:c.803G>C	ENSP00000498032.1:p.Trp268Ser
ENST00000312251.7:c.803G>C	ENSP00000310998.3:p.Trp268Ser
ENST00000381955.7:c.803G>C	ENSP00000371381.3:p.Trp268Ser
ENST00000562037.1:c.564G>C	ENSP00000464994.1:n.564G>C
ENST00000562346.2:c.505-812G>C
ENST00000562746.5:c.803G>C	ENSP00000455900.1:p.Trp268Ser
ENST00000563578.5:c.621G>C
ENST00000564397.5:n.1162G>C
ENST00000565876.5:c.480+1388G>C
ENST00000567739.5:n.122G>C
ENST00000568202.5:n.666G>C
ENST00000569296.5:c.347G>C	ENSP00000465949.1:p.Trp116Ser
NM_016256.3:c.803G>C	NP_057340.2:p.Trp268Ser
XM_011522517.1:c.803G>C	XP_011520819.1:p.Trp268Ser
XM_011522518.1:c.803G>C	XP_011520820.1:p.Trp268Ser
XM_011522519.1:c.803G>C	XP_011520821.1:p.Trp268Ser
XR_243285.1:n.830G>C
XM_011522517.3:c.803G>C	XP_011520819.1:p.Trp268Ser
XR_001751908.2:n.829G>C
XR_001751909.2:n.829G>C
XR_001751910.2:n.829G>C
XR_001751911.2:n.829G>C
XR_001751912.2:n.829G>C
NM_016256.4:c.803G>C MANE Select	NP_057340.2:p.Trp268Ser