Canonical Allele Identifier: CA500215715

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42536329-G-T
• MyVariant Identifiers: chr17:g.40688347G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536329G>T , CM000679.2:g.42536329G>T	GRCh38
NC_000017.10:g.40688347G>T , CM000679.1:g.40688347G>T	GRCh37
NC_000017.9:g.37941873G>T	NCBI36
NG_011552.1:g.5397G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.57G>T MANE Select	ENSP00000225927.1:p.Gly19=
ENST00000225927.6:c.57G>T	ENSP00000225927.1:p.Gly19=
NM_000263.3:c.57G>T	NP_000254.2:p.Gly19=
XM_024450771.1:c.57G>T	XP_024306539.1:p.Gly19=
NM_000263.4:c.57G>T MANE Select	NP_000254.2:p.Gly19=