Canonical Allele Identifier: CA500217958

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42544184-G-T
• MyVariant Identifiers: chr17:g.40696202G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544184G>T , CM000679.2:g.42544184G>T	GRCh38
NC_000017.10:g.40696202G>T , CM000679.1:g.40696202G>T	GRCh37
NC_000017.9:g.37949728G>T	NCBI36
NG_011552.1:g.13252G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2178G>T MANE Select	ENSP00000225927.1:p.Leu726=
ENST00000225927.6:c.2178G>T	ENSP00000225927.1:p.Leu726=
NM_000263.3:c.2178G>T	NP_000254.2:p.Leu726=
XM_006721920.2:c.1347G>T	XP_006721983.1:p.Leu449=
XM_011524840.1:c.1179G>T	XP_011523142.1:p.Leu393=
XM_017024687.1:c.1347G>T	XP_016880176.1:p.Leu449=
XM_024450771.1:c.2235G>T	XP_024306539.1:p.Leu745=
XM_024450772.1:c.1179G>T	XP_024306540.1:p.Leu393=
NM_000263.4:c.2178G>T MANE Select	NP_000254.2:p.Leu726=