Canonical Allele Identifier: CA620717977

Gene: NAGPA

Linked Data

• dbSNP Id: rs886907935
• gnomAD v2: 16-5077582-G-A
• gnomAD v3: 16-5027581-G-A
• gnomAD v4: 16-5027581-G-A
• MyVariant Identifiers: chr16:g.5077582G>A (hg19) ; chr16:g.5027581G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5027581G>A , CM000678.2:g.5027581G>A	GRCh38
NC_000016.9:g.5077582G>A , CM000678.1:g.5077582G>A	GRCh37
NC_000016.8:g.5017583G>A	NCBI36
NG_028152.1:g.11361C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.1175-202C>T MANE Select	ENSP00000310998.3:n.1175-202C>T
ENST00000649828.1:c.*347-202C>T	ENSP00000498032.1:n.*347-202C>T
ENST00000312251.7:c.1175-202C>T	ENSP00000310998.3:n.1175-202C>T
ENST00000381955.7:c.1174+265C>T	ENSP00000371381.3:n.1174+265C>T
ENST00000562746.5:c.*347-202C>T	ENSP00000455900.1:n.*347-202C>T
ENST00000563578.5:c.738+1299C>T
ENST00000564397.5:n.2228-202C>T
ENST00000565876.5:c.481-202C>T
ENST00000566137.5:n.473-202C>T
ENST00000567739.5:n.494-202C>T
ENST00000568202.5:n.1038-202C>T
ENST00000569296.5:c.788-202C>T	ENSP00000465949.1:n.788-202C>T
NM_016256.3:c.1175-202C>T	NP_057340.2:n.1175-202C>T
XM_011522517.1:c.1175-202C>T	XP_011520819.1:n.1175-202C>T
XR_243285.1:n.1271-202C>T
XM_011522517.3:c.1175-202C>T	XP_011520819.1:n.1175-202C>T
XR_001751908.2:n.1270-202C>T
XR_001751909.2:n.1274-202C>T
XR_001751910.2:n.1303-202C>T
XR_001751911.2:n.1303-202C>T
XR_001751912.2:n.1307-202C>T
NM_016256.4:c.1175-202C>T MANE Select	NP_057340.2:n.1175-202C>T