Canonical Allele Identifier: CA394660213

Gene: NAGPA

Linked Data

• dbSNP Id: rs1267815749
• gnomAD v3: 16-5027880-A-T
• gnomAD v4: 16-5027880-A-T
• MyVariant Identifiers: chr16:g.5077881A>T (hg19) ; chr16:g.5027880A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5027880A>T , CM000678.2:g.5027880A>T	GRCh38
NC_000016.9:g.5077881A>T , CM000678.1:g.5077881A>T	GRCh37
NC_000016.8:g.5017882A>T	NCBI36
NG_028152.1:g.11062T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.1140T>A MANE Select	ENSP00000310998.3:p.Cys380Ter
ENST00000649828.1:c.*312T>A	ENSP00000498032.1:n.*312T>A
ENST00000312251.7:c.1140T>A	ENSP00000310998.3:p.Cys380Ter
ENST00000381955.7:c.1140T>A	ENSP00000371381.3:p.Cys380Ter
ENST00000562746.5:c.*312T>A	ENSP00000455900.1:n.*312T>A
ENST00000563578.5:c.738+1000T>A
ENST00000564397.5:n.2193T>A
ENST00000565876.5:c.481-501T>A
ENST00000566137.5:n.438T>A
ENST00000567739.5:n.459T>A
ENST00000568202.5:n.1003T>A
ENST00000569296.5:c.753T>A	ENSP00000465949.1:n.753T>A
NM_016256.3:c.1140T>A	NP_057340.2:p.Cys380Ter
XM_011522517.1:c.1140T>A	XP_011520819.1:p.Cys380Ter
XR_243285.1:n.1236T>A
XM_011522517.3:c.1140T>A	XP_011520819.1:p.Cys380Ter
XR_001751908.2:n.1235T>A
XR_001751909.2:n.1239T>A
XR_001751910.2:n.1268T>A
XR_001751911.2:n.1268T>A
XR_001751912.2:n.1272T>A
NM_016256.4:c.1140T>A MANE Select	NP_057340.2:p.Cys380Ter