Canonical Allele Identifier: CA2203673649

Gene: NAGPA

Linked Data

• dbSNP Id: rs1596661208
• gnomAD v3: 16-5027791-G-C
• gnomAD v4: 16-5027791-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5027791G>C , CM000678.2:g.5027791G>C	GRCh38
NC_000016.9:g.5077792G>C , CM000678.1:g.5077792G>C	GRCh37
NC_000016.8:g.5017793G>C	NCBI36
NG_028152.1:g.11151C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.1174+55C>G MANE Select	ENSP00000310998.3:n.1174+55C>G
ENST00000649828.1:c.*346+55C>G	ENSP00000498032.1:n.*346+55C>G
ENST00000312251.7:c.1174+55C>G	ENSP00000310998.3:n.1174+55C>G
ENST00000381955.7:c.1174+55C>G	ENSP00000371381.3:n.1174+55C>G
ENST00000562746.5:c.*346+55C>G	ENSP00000455900.1:n.*346+55C>G
ENST00000563578.5:c.738+1089C>G
ENST00000564397.5:n.2227+55C>G
ENST00000565876.5:c.481-412C>G
ENST00000566137.5:n.472+55C>G
ENST00000567739.5:n.493+55C>G
ENST00000568202.5:n.1037+55C>G
ENST00000569296.5:c.787+55C>G	ENSP00000465949.1:n.787+55C>G
NM_016256.3:c.1174+55C>G	NP_057340.2:n.1174+55C>G
XM_011522517.1:c.1174+55C>G	XP_011520819.1:n.1174+55C>G
XR_243285.1:n.1270+55C>G
XM_011522517.3:c.1174+55C>G	XP_011520819.1:n.1174+55C>G
XR_001751908.2:n.1269+55C>G
XR_001751909.2:n.1273+55C>G
XR_001751910.2:n.1302+55C>G
XR_001751911.2:n.1302+55C>G
XR_001751912.2:n.1306+55C>G
NM_016256.4:c.1174+55C>G MANE Select	NP_057340.2:n.1174+55C>G