Canonical Allele Identifier: CA394662525

Gene: NAGPA

Linked Data

• ClinVar Variation Id: 2532069
• ClinVar RCV Id: RCV004305890
• MyVariant Identifiers: chr16:g.5078887T>C (hg19) ; chr16:g.5028886T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5028886T>C , CM000678.2:g.5028886T>C	GRCh38
NC_000016.9:g.5078887T>C , CM000678.1:g.5078887T>C	GRCh37
NC_000016.8:g.5018888T>C	NCBI36
NG_028152.1:g.10056A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.914A>G MANE Select	ENSP00000310998.3:p.Asp305Gly
ENST00000649828.1:c.914A>G	ENSP00000498032.1:p.Asp305Gly
ENST00000312251.7:c.914A>G	ENSP00000310998.3:p.Asp305Gly
ENST00000381955.7:c.914A>G	ENSP00000371381.3:p.Asp305Gly
ENST00000562346.2:c.505-701A>G
ENST00000562746.5:c.914A>G	ENSP00000455900.1:p.Asp305Gly
ENST00000563578.5:c.732A>G
ENST00000564397.5:n.1273A>G
ENST00000565876.5:c.480+1499A>G
ENST00000567739.5:n.233A>G
ENST00000568202.5:n.777A>G
ENST00000569296.5:c.458A>G	ENSP00000465949.1:p.Asp153Gly
NM_016256.3:c.914A>G	NP_057340.2:p.Asp305Gly
XM_011522517.1:c.914A>G	XP_011520819.1:p.Asp305Gly
XM_011522518.1:c.914A>G	XP_011520820.1:p.Asp305Gly
XM_011522519.1:c.914A>G	XP_011520821.1:p.Asp305Gly
XR_243285.1:n.941A>G
XM_011522517.3:c.914A>G	XP_011520819.1:p.Asp305Gly
XR_001751908.2:n.940A>G
XR_001751909.2:n.940A>G
XR_001751910.2:n.940A>G
XR_001751911.2:n.940A>G
XR_001751912.2:n.940A>G
NM_016256.4:c.914A>G MANE Select	NP_057340.2:p.Asp305Gly