Canonical Allele Identifier: CA394660789

Gene: NAGPA

Linked Data

• MyVariant Identifiers: chr16:g.5078021A>C (hg19) ; chr16:g.5028020A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5028020A>C , CM000678.2:g.5028020A>C	GRCh38
NC_000016.9:g.5078021A>C , CM000678.1:g.5078021A>C	GRCh37
NC_000016.8:g.5018022A>C	NCBI36
NG_028152.1:g.10922T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.1086T>G MANE Select	ENSP00000310998.3:p.Cys362Trp
ENST00000649828.1:c.*258T>G	ENSP00000498032.1:n.*258T>G
ENST00000312251.7:c.1086T>G	ENSP00000310998.3:p.Cys362Trp
ENST00000381955.7:c.1086T>G	ENSP00000371381.3:p.Cys362Trp
ENST00000562746.5:c.*258T>G	ENSP00000455900.1:n.*258T>G
ENST00000563578.5:c.738+860T>G
ENST00000564397.5:n.2139T>G
ENST00000565876.5:c.481-641T>G
ENST00000566137.5:n.384T>G
ENST00000567739.5:n.405T>G
ENST00000568202.5:n.949T>G
ENST00000569296.5:c.699T>G	ENSP00000465949.1:n.699T>G
NM_016256.3:c.1086T>G	NP_057340.2:p.Cys362Trp
XM_011522517.1:c.1086T>G	XP_011520819.1:p.Cys362Trp
XR_243285.1:n.1182T>G
XM_011522517.3:c.1086T>G	XP_011520819.1:p.Cys362Trp
XR_001751908.2:n.1181T>G
XR_001751909.2:n.1185T>G
XR_001751910.2:n.1214T>G
XR_001751911.2:n.1214T>G
XR_001751912.2:n.1218T>G
NM_016256.4:c.1086T>G MANE Select	NP_057340.2:p.Cys362Trp