Canonical Allele Identifier: CA2203673588

Gene: NAGPA

Linked Data

• dbSNP Id: rs1956027493
• gnomAD v4: 16-5027735-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5027735A>G , CM000678.2:g.5027735A>G	GRCh38
NC_000016.9:g.5077736A>G , CM000678.1:g.5077736A>G	GRCh37
NC_000016.8:g.5017737A>G	NCBI36
NG_028152.1:g.11207T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.1174+111T>C MANE Select	ENSP00000310998.3:n.1174+111T>C
ENST00000649828.1:c.*346+111T>C	ENSP00000498032.1:n.*346+111T>C
ENST00000312251.7:c.1174+111T>C	ENSP00000310998.3:n.1174+111T>C
ENST00000381955.7:c.1174+111T>C	ENSP00000371381.3:n.1174+111T>C
ENST00000562746.5:c.*346+111T>C	ENSP00000455900.1:n.*346+111T>C
ENST00000563578.5:c.738+1145T>C
ENST00000564397.5:n.2227+111T>C
ENST00000565876.5:c.481-356T>C
ENST00000566137.5:n.472+111T>C
ENST00000567739.5:n.493+111T>C
ENST00000568202.5:n.1037+111T>C
ENST00000569296.5:c.787+111T>C	ENSP00000465949.1:n.787+111T>C
NM_016256.3:c.1174+111T>C	NP_057340.2:n.1174+111T>C
XM_011522517.1:c.1174+111T>C	XP_011520819.1:n.1174+111T>C
XR_243285.1:n.1270+111T>C
XM_011522517.3:c.1174+111T>C	XP_011520819.1:n.1174+111T>C
XR_001751908.2:n.1269+111T>C
XR_001751909.2:n.1273+111T>C
XR_001751910.2:n.1302+111T>C
XR_001751911.2:n.1302+111T>C
XR_001751912.2:n.1306+111T>C
NM_016256.4:c.1174+111T>C MANE Select	NP_057340.2:n.1174+111T>C