Canonical Allele Identifier: CA7888688

Gene: NAGPA

Linked Data

• dbSNP Id: rs759357440
• ExAC: 16:5078969 C / T
• gnomAD v2: 16-5078969-C-T
• gnomAD v4: 16-5028968-C-T
• MyVariant Identifiers: chr16:g.5078969C>T (hg19) ; chr16:g.5028968C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5028968C>T , CM000678.2:g.5028968C>T	GRCh38
NC_000016.9:g.5078969C>T , CM000678.1:g.5078969C>T	GRCh37
NC_000016.8:g.5018970C>T	NCBI36
NG_028152.1:g.9974G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.832G>A MANE Select	ENSP00000310998.3:p.Asp278Asn
ENST00000649828.1:c.832G>A	ENSP00000498032.1:p.Asp278Asn
ENST00000312251.7:c.832G>A	ENSP00000310998.3:p.Asp278Asn
ENST00000381955.7:c.832G>A	ENSP00000371381.3:p.Asp278Asn
ENST00000562037.1:c.593G>A	ENSP00000464994.1:n.593G>A
ENST00000562346.2:c.505-783G>A
ENST00000562746.5:c.832G>A	ENSP00000455900.1:p.Asp278Asn
ENST00000563578.5:c.650G>A
ENST00000564397.5:n.1191G>A
ENST00000565876.5:c.480+1417G>A
ENST00000567739.5:n.151G>A
ENST00000568202.5:n.695G>A
ENST00000569296.5:c.376G>A	ENSP00000465949.1:p.Asp126Asn
NM_016256.3:c.832G>A	NP_057340.2:p.Asp278Asn
XM_011522517.1:c.832G>A	XP_011520819.1:p.Asp278Asn
XM_011522518.1:c.832G>A	XP_011520820.1:p.Asp278Asn
XM_011522519.1:c.832G>A	XP_011520821.1:p.Asp278Asn
XR_243285.1:n.859G>A
XM_011522517.3:c.832G>A	XP_011520819.1:p.Asp278Asn
XR_001751908.2:n.858G>A
XR_001751909.2:n.858G>A
XR_001751910.2:n.858G>A
XR_001751911.2:n.858G>A
XR_001751912.2:n.858G>A
NM_016256.4:c.832G>A MANE Select	NP_057340.2:p.Asp278Asn