Canonical Allele Identifier: CA394660846

Gene: NAGPA

Linked Data

• MyVariant Identifiers: chr16:g.5078029G>C (hg19) ; chr16:g.5028028G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5028028G>C , CM000678.2:g.5028028G>C	GRCh38
NC_000016.9:g.5078029G>C , CM000678.1:g.5078029G>C	GRCh37
NC_000016.8:g.5018030G>C	NCBI36
NG_028152.1:g.10914C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.1078C>G MANE Select	ENSP00000310998.3:p.Leu360Val
ENST00000649828.1:c.*250C>G	ENSP00000498032.1:n.*250C>G
ENST00000312251.7:c.1078C>G	ENSP00000310998.3:p.Leu360Val
ENST00000381955.7:c.1078C>G	ENSP00000371381.3:p.Leu360Val
ENST00000562746.5:c.*250C>G	ENSP00000455900.1:n.*250C>G
ENST00000563578.5:c.738+852C>G
ENST00000564397.5:n.2131C>G
ENST00000565876.5:c.481-649C>G
ENST00000566137.5:n.376C>G
ENST00000567739.5:n.397C>G
ENST00000568202.5:n.941C>G
ENST00000569296.5:c.691C>G	ENSP00000465949.1:n.691C>G
NM_016256.3:c.1078C>G	NP_057340.2:p.Leu360Val
XM_011522517.1:c.1078C>G	XP_011520819.1:p.Leu360Val
XR_243285.1:n.1174C>G
XM_011522517.3:c.1078C>G	XP_011520819.1:p.Leu360Val
XR_001751908.2:n.1173C>G
XR_001751909.2:n.1177C>G
XR_001751910.2:n.1206C>G
XR_001751911.2:n.1206C>G
XR_001751912.2:n.1210C>G
NM_016256.4:c.1078C>G MANE Select	NP_057340.2:p.Leu360Val