Canonical Allele Identifier: CA620718026

Gene: NAGPA

Linked Data

• dbSNP Id: rs1241401350
• gnomAD v2: 16-5077931-T-C
• gnomAD v4: 16-5027930-T-C
• MyVariant Identifiers: chr16:g.5077931T>C (hg19) ; chr16:g.5027930T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5027930T>C , CM000678.2:g.5027930T>C	GRCh38
NC_000016.9:g.5077931T>C , CM000678.1:g.5077931T>C	GRCh37
NC_000016.8:g.5017932T>C	NCBI36
NG_028152.1:g.11012A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.1127-37A>G MANE Select	ENSP00000310998.3:n.1127-37A>G
ENST00000649828.1:c.*299-37A>G	ENSP00000498032.1:n.*299-37A>G
ENST00000312251.7:c.1127-37A>G	ENSP00000310998.3:n.1127-37A>G
ENST00000381955.7:c.1127-37A>G	ENSP00000371381.3:n.1127-37A>G
ENST00000562746.5:c.*299-37A>G	ENSP00000455900.1:n.*299-37A>G
ENST00000563578.5:c.738+950A>G
ENST00000564397.5:n.2180-37A>G
ENST00000565876.5:c.481-551A>G
ENST00000566137.5:n.425-37A>G
ENST00000567739.5:n.446-37A>G
ENST00000568202.5:n.990-37A>G
ENST00000569296.5:c.740-37A>G	ENSP00000465949.1:n.740-37A>G
NM_016256.3:c.1127-37A>G	NP_057340.2:n.1127-37A>G
XM_011522517.1:c.1127-37A>G	XP_011520819.1:n.1127-37A>G
XR_243285.1:n.1223-37A>G
XM_011522517.3:c.1127-37A>G	XP_011520819.1:n.1127-37A>G
XR_001751908.2:n.1222-37A>G
XR_001751909.2:n.1226-37A>G
XR_001751910.2:n.1255-37A>G
XR_001751911.2:n.1255-37A>G
XR_001751912.2:n.1259-37A>G
NM_016256.4:c.1127-37A>G MANE Select	NP_057340.2:n.1127-37A>G