Canonical Allele Identifier: CA399600247

Gene: NAGLU

Linked Data

• dbSNP Id: rs1258320823
• gnomAD v2: 17-40693139-C-G
• gnomAD v4: 17-42541121-C-G
• MyVariant Identifiers: chr17:g.40693139C>G (hg19) ; chr17:g.42541121C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541121C>G , CM000679.2:g.42541121C>G	GRCh38
NC_000017.10:g.40693139C>G , CM000679.1:g.40693139C>G	GRCh37
NC_000017.9:g.37946665C>G	NCBI36
NG_011552.1:g.10189C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.936C>G MANE Select	ENSP00000225927.1:p.Asp312Glu
ENST00000225927.6:c.936C>G	ENSP00000225927.1:p.Asp312Glu
ENST00000591587.1:c.360-1907C>G	ENSP00000467836.1:n.360-1907C>G
ENST00000592454.1:c.31C>G
NM_000263.3:c.936C>G	NP_000254.2:p.Asp312Glu
XM_006721920.2:c.105C>G	XP_006721983.1:p.Asp35Glu
XM_011524840.1:c.23-1907C>G	XP_011523142.1:n.23-1907C>G
XM_017024687.1:c.105C>G	XP_016880176.1:p.Asp35Glu
XM_024450771.1:c.993C>G	XP_024306539.1:p.Asp331Glu
XM_024450772.1:c.23-1907C>G	XP_024306540.1:n.23-1907C>G
NM_000263.4:c.936C>G MANE Select	NP_000254.2:p.Asp312Glu