Canonical Allele Identifier: CA7888705

Gene: NAGPA

Linked Data

• dbSNP Id: rs748371950
• ExAC: 16:5079021 A / C
• gnomAD v2: 16-5079021-A-C
• gnomAD v4: 16-5029020-A-C
• MyVariant Identifiers: chr16:g.5079021A>C (hg19) ; chr16:g.5029020A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5029020A>C , CM000678.2:g.5029020A>C	GRCh38
NC_000016.9:g.5079021A>C , CM000678.1:g.5079021A>C	GRCh37
NC_000016.8:g.5019022A>C	NCBI36
NG_028152.1:g.9922T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.792-12T>G MANE Select	ENSP00000310998.3:n.792-12T>G
ENST00000649828.1:c.792-12T>G	ENSP00000498032.1:n.792-12T>G
ENST00000312251.7:c.792-12T>G	ENSP00000310998.3:n.792-12T>G
ENST00000381955.7:c.792-12T>G	ENSP00000371381.3:n.792-12T>G
ENST00000562037.1:c.553-12T>G	ENSP00000464994.1:n.553-12T>G
ENST00000562346.2:c.505-835T>G
ENST00000562746.5:c.792-12T>G	ENSP00000455900.1:n.792-12T>G
ENST00000563578.5:c.610-12T>G
ENST00000564397.5:n.1139T>G
ENST00000565876.5:c.480+1365T>G
ENST00000567739.5:n.99T>G
ENST00000568202.5:n.655-12T>G
ENST00000569296.5:c.336-12T>G	ENSP00000465949.1:n.336-12T>G
NM_016256.3:c.792-12T>G	NP_057340.2:n.792-12T>G
XM_011522517.1:c.792-12T>G	XP_011520819.1:n.792-12T>G
XM_011522518.1:c.792-12T>G	XP_011520820.1:n.792-12T>G
XM_011522519.1:c.792-12T>G	XP_011520821.1:n.792-12T>G
XR_243285.1:n.819-12T>G
XM_011522517.3:c.792-12T>G	XP_011520819.1:n.792-12T>G
XR_001751908.2:n.818-12T>G
XR_001751909.2:n.818-12T>G
XR_001751910.2:n.818-12T>G
XR_001751911.2:n.818-12T>G
XR_001751912.2:n.818-12T>G
NM_016256.4:c.792-12T>G MANE Select	NP_057340.2:n.792-12T>G