Canonical Allele Identifier: CA620717992

Gene: NAGPA

Linked Data

• dbSNP Id: rs1426282465
• gnomAD v2: 16-5077800-C-G
• MyVariant Identifiers: chr16:g.5077800C>G (hg19) ; chr16:g.5027799C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5027799C>G , CM000678.2:g.5027799C>G	GRCh38
NC_000016.9:g.5077800C>G , CM000678.1:g.5077800C>G	GRCh37
NC_000016.8:g.5017801C>G	NCBI36
NG_028152.1:g.11143G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.1174+47G>C MANE Select	ENSP00000310998.3:n.1174+47G>C
ENST00000649828.1:c.*346+47G>C	ENSP00000498032.1:n.*346+47G>C
ENST00000312251.7:c.1174+47G>C	ENSP00000310998.3:n.1174+47G>C
ENST00000381955.7:c.1174+47G>C	ENSP00000371381.3:n.1174+47G>C
ENST00000562746.5:c.*346+47G>C	ENSP00000455900.1:n.*346+47G>C
ENST00000563578.5:c.738+1081G>C
ENST00000564397.5:n.2227+47G>C
ENST00000565876.5:c.481-420G>C
ENST00000566137.5:n.472+47G>C
ENST00000567739.5:n.493+47G>C
ENST00000568202.5:n.1037+47G>C
ENST00000569296.5:c.787+47G>C	ENSP00000465949.1:n.787+47G>C
NM_016256.3:c.1174+47G>C	NP_057340.2:n.1174+47G>C
XM_011522517.1:c.1174+47G>C	XP_011520819.1:n.1174+47G>C
XR_243285.1:n.1270+47G>C
XM_011522517.3:c.1174+47G>C	XP_011520819.1:n.1174+47G>C
XR_001751908.2:n.1269+47G>C
XR_001751909.2:n.1273+47G>C
XR_001751910.2:n.1302+47G>C
XR_001751911.2:n.1302+47G>C
XR_001751912.2:n.1306+47G>C
NM_016256.4:c.1174+47G>C MANE Select	NP_057340.2:n.1174+47G>C