Canonical Allele Identifier: CA277161464

Gene: NAGPA

Linked Data

• dbSNP Id: rs945789351
• MyVariant Identifiers: chr16:g.5078902G>T (hg19) ; chr16:g.5028901G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5028901G>T , CM000678.2:g.5028901G>T	GRCh38
NC_000016.9:g.5078902G>T , CM000678.1:g.5078902G>T	GRCh37
NC_000016.8:g.5018903G>T	NCBI36
NG_028152.1:g.10041C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.899C>A MANE Select	ENSP00000310998.3:p.Ala300Asp
ENST00000649828.1:c.899C>A	ENSP00000498032.1:p.Ala300Asp
ENST00000312251.7:c.899C>A	ENSP00000310998.3:p.Ala300Asp
ENST00000381955.7:c.899C>A	ENSP00000371381.3:p.Ala300Asp
ENST00000562346.2:c.505-716C>A
ENST00000562746.5:c.899C>A	ENSP00000455900.1:p.Ala300Asp
ENST00000563578.5:c.717C>A
ENST00000564397.5:n.1258C>A
ENST00000565876.5:c.480+1484C>A
ENST00000567739.5:n.218C>A
ENST00000568202.5:n.762C>A
ENST00000569296.5:c.443C>A	ENSP00000465949.1:p.Ala148Asp
NM_016256.3:c.899C>A	NP_057340.2:p.Ala300Asp
XM_011522517.1:c.899C>A	XP_011520819.1:p.Ala300Asp
XM_011522518.1:c.899C>A	XP_011520820.1:p.Ala300Asp
XM_011522519.1:c.899C>A	XP_011520821.1:p.Ala300Asp
XR_243285.1:n.926C>A
XM_011522517.3:c.899C>A	XP_011520819.1:p.Ala300Asp
XR_001751908.2:n.925C>A
XR_001751909.2:n.925C>A
XR_001751910.2:n.925C>A
XR_001751911.2:n.925C>A
XR_001751912.2:n.925C>A
NM_016256.4:c.899C>A MANE Select	NP_057340.2:p.Ala300Asp