Canonical Allele Identifier: CA721280136

Gene: NAGPA

Linked Data

• dbSNP Id: rs1345814611
• gnomAD v3: 16-5027603-G-A
• gnomAD v4: 16-5027603-G-A
• MyVariant Identifiers: chr16:g.5077604G>A (hg19) ; chr16:g.5027603G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5027603G>A , CM000678.2:g.5027603G>A	GRCh38
NC_000016.9:g.5077604G>A , CM000678.1:g.5077604G>A	GRCh37
NC_000016.8:g.5017605G>A	NCBI36
NG_028152.1:g.11339C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.1175-224C>T MANE Select	ENSP00000310998.3:n.1175-224C>T
ENST00000649828.1:c.*347-224C>T	ENSP00000498032.1:n.*347-224C>T
ENST00000312251.7:c.1175-224C>T	ENSP00000310998.3:n.1175-224C>T
ENST00000381955.7:c.1174+243C>T	ENSP00000371381.3:n.1174+243C>T
ENST00000562746.5:c.*347-224C>T	ENSP00000455900.1:n.*347-224C>T
ENST00000563578.5:c.738+1277C>T
ENST00000564397.5:n.2228-224C>T
ENST00000565876.5:c.481-224C>T
ENST00000566137.5:n.473-224C>T
ENST00000567739.5:n.494-224C>T
ENST00000568202.5:n.1038-224C>T
ENST00000569296.5:c.788-224C>T	ENSP00000465949.1:n.788-224C>T
NM_016256.3:c.1175-224C>T	NP_057340.2:n.1175-224C>T
XM_011522517.1:c.1175-224C>T	XP_011520819.1:n.1175-224C>T
XR_243285.1:n.1271-224C>T
XM_011522517.3:c.1175-224C>T	XP_011520819.1:n.1175-224C>T
XR_001751908.2:n.1270-224C>T
XR_001751909.2:n.1274-224C>T
XR_001751910.2:n.1303-224C>T
XR_001751911.2:n.1303-224C>T
XR_001751912.2:n.1307-224C>T
NM_016256.4:c.1175-224C>T MANE Select	NP_057340.2:n.1175-224C>T