Canonical Allele Identifier: CA394660443

Gene: NAGPA

Linked Data

• dbSNP Id: rs1956033666
• gnomAD v4: 16-5027981-C-G
• COSMIC: COSM5984259
• MyVariant Identifiers: chr16:g.5077982C>G (hg19) ; chr16:g.5027981C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5027981C>G , CM000678.2:g.5027981C>G	GRCh38
NC_000016.9:g.5077982C>G , CM000678.1:g.5077982C>G	GRCh37
NC_000016.8:g.5017983C>G	NCBI36
NG_028152.1:g.10961G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.1125G>C MANE Select	ENSP00000310998.3:p.Glu375Asp
ENST00000649828.1:c.*297G>C	ENSP00000498032.1:n.*297G>C
ENST00000312251.7:c.1125G>C	ENSP00000310998.3:p.Glu375Asp
ENST00000381955.7:c.1125G>C	ENSP00000371381.3:p.Glu375Asp
ENST00000562746.5:c.*297G>C	ENSP00000455900.1:n.*297G>C
ENST00000563578.5:c.738+899G>C
ENST00000564397.5:n.2178G>C
ENST00000565876.5:c.481-602G>C
ENST00000566137.5:n.423G>C
ENST00000567739.5:n.444G>C
ENST00000568202.5:n.988G>C
ENST00000569296.5:c.738G>C	ENSP00000465949.1:n.738G>C
NM_016256.3:c.1125G>C	NP_057340.2:p.Glu375Asp
XM_011522517.1:c.1125G>C	XP_011520819.1:p.Glu375Asp
XR_243285.1:n.1221G>C
XM_011522517.3:c.1125G>C	XP_011520819.1:p.Glu375Asp
XR_001751908.2:n.1220G>C
XR_001751909.2:n.1224G>C
XR_001751910.2:n.1253G>C
XR_001751911.2:n.1253G>C
XR_001751912.2:n.1257G>C
NM_016256.4:c.1125G>C MANE Select	NP_057340.2:p.Glu375Asp