Canonical Allele Identifier: CA399605160

Gene: NAGLU

Linked Data

• dbSNP Id: rs1194023357
• gnomAD v2: 17-40695880-G-A
• gnomAD v4: 17-42543862-G-A
• MyVariant Identifiers: chr17:g.40695880G>A (hg19) ; chr17:g.42543862G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543862G>A , CM000679.2:g.42543862G>A	GRCh38
NC_000017.10:g.40695880G>A , CM000679.1:g.40695880G>A	GRCh37
NC_000017.9:g.37949406G>A	NCBI36
NG_011552.1:g.12930G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000225927.7:c.1856G>A MANE Select	ENSP00000225927.1:p.Gly619Asp
ENST00000225927.6:c.1856G>A	ENSP00000225927.1:p.Gly619Asp
ENST00000591587.1:c.1194G>A	ENSP00000467836.1:n.1194G>A
NM_000263.3:c.1856G>A	NP_000254.2:p.Gly619Asp
XM_006721920.2:c.1025G>A	XP_006721983.1:p.Gly342Asp
XM_011524840.1:c.857G>A	XP_011523142.1:p.Gly286Asp
XM_017024687.1:c.1025G>A	XP_016880176.1:p.Gly342Asp
XM_024450771.1:c.1913G>A	XP_024306539.1:p.Gly638Asp
XM_024450772.1:c.857G>A	XP_024306540.1:p.Gly286Asp
NM_000263.4:c.1856G>A MANE Select	NP_000254.2:p.Gly619Asp