Canonical Allele Identifier: CA2631583583

Gene: NAGPA

Linked Data

• gnomAD v4: 16-5027940-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5027940C>G , CM000678.2:g.5027940C>G	GRCh38
NC_000016.9:g.5077941C>G , CM000678.1:g.5077941C>G	GRCh37
NC_000016.8:g.5017942C>G	NCBI36
NG_028152.1:g.11002G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.1126+40G>C MANE Select	ENSP00000310998.3:n.1126+40G>C
ENST00000649828.1:c.*298+40G>C	ENSP00000498032.1:n.*298+40G>C
ENST00000312251.7:c.1126+40G>C	ENSP00000310998.3:n.1126+40G>C
ENST00000381955.7:c.1126+40G>C	ENSP00000371381.3:n.1126+40G>C
ENST00000562746.5:c.*298+40G>C	ENSP00000455900.1:n.*298+40G>C
ENST00000563578.5:c.738+940G>C
ENST00000564397.5:n.2179+40G>C
ENST00000565876.5:c.481-561G>C
ENST00000566137.5:n.424+40G>C
ENST00000567739.5:n.445+40G>C
ENST00000568202.5:n.989+40G>C
ENST00000569296.5:c.739+40G>C	ENSP00000465949.1:n.739+40G>C
NM_016256.3:c.1126+40G>C	NP_057340.2:n.1126+40G>C
XM_011522517.1:c.1126+40G>C	XP_011520819.1:n.1126+40G>C
XR_243285.1:n.1222+40G>C
XM_011522517.3:c.1126+40G>C	XP_011520819.1:n.1126+40G>C
XR_001751908.2:n.1221+40G>C
XR_001751909.2:n.1225+40G>C
XR_001751910.2:n.1254+40G>C
XR_001751911.2:n.1254+40G>C
XR_001751912.2:n.1258+40G>C
NM_016256.4:c.1126+40G>C MANE Select	NP_057340.2:n.1126+40G>C