Canonical Allele Identifier: CA394662643

Gene: NAGPA

Linked Data

• dbSNP Id: rs371976728
• gnomAD v3: 16-5028913-T-G
• gnomAD v4: 16-5028913-T-G
• MyVariant Identifiers: chr16:g.5078914T>G (hg19) ; chr16:g.5028913T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5028913T>G , CM000678.2:g.5028913T>G	GRCh38
NC_000016.9:g.5078914T>G , CM000678.1:g.5078914T>G	GRCh37
NC_000016.8:g.5018915T>G	NCBI36
NG_028152.1:g.10029A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.887A>C MANE Select	ENSP00000310998.3:p.Asn296Thr
ENST00000649828.1:c.887A>C	ENSP00000498032.1:p.Asn296Thr
ENST00000312251.7:c.887A>C	ENSP00000310998.3:p.Asn296Thr
ENST00000381955.7:c.887A>C	ENSP00000371381.3:p.Asn296Thr
ENST00000562346.2:c.505-728A>C
ENST00000562746.5:c.887A>C	ENSP00000455900.1:p.Asn296Thr
ENST00000563578.5:c.705A>C
ENST00000564397.5:n.1246A>C
ENST00000565876.5:c.480+1472A>C
ENST00000567739.5:n.206A>C
ENST00000568202.5:n.750A>C
ENST00000569296.5:c.431A>C	ENSP00000465949.1:p.Asn144Thr
NM_016256.3:c.887A>C	NP_057340.2:p.Asn296Thr
XM_011522517.1:c.887A>C	XP_011520819.1:p.Asn296Thr
XM_011522518.1:c.887A>C	XP_011520820.1:p.Asn296Thr
XM_011522519.1:c.887A>C	XP_011520821.1:p.Asn296Thr
XR_243285.1:n.914A>C
XM_011522517.3:c.887A>C	XP_011520819.1:p.Asn296Thr
XR_001751908.2:n.913A>C
XR_001751909.2:n.913A>C
XR_001751910.2:n.913A>C
XR_001751911.2:n.913A>C
XR_001751912.2:n.913A>C
NM_016256.4:c.887A>C MANE Select	NP_057340.2:p.Asn296Thr