Canonical Allele Identifier: CA500217588

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42543815-G-T
• MyVariant Identifiers: chr17:g.40695833G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543815G>T , CM000679.2:g.42543815G>T	GRCh38
NC_000017.10:g.40695833G>T , CM000679.1:g.40695833G>T	GRCh37
NC_000017.9:g.37949359G>T	NCBI36
NG_011552.1:g.12883G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1809G>T MANE Select	ENSP00000225927.1:p.Leu603=
ENST00000225927.6:c.1809G>T	ENSP00000225927.1:p.Leu603=
ENST00000591587.1:c.1147G>T	ENSP00000467836.1:n.1147G>T
NM_000263.3:c.1809G>T	NP_000254.2:p.Leu603=
XM_006721920.2:c.978G>T	XP_006721983.1:p.Leu326=
XM_011524840.1:c.810G>T	XP_011523142.1:p.Leu270=
XM_017024687.1:c.978G>T	XP_016880176.1:p.Leu326=
XM_024450771.1:c.1866G>T	XP_024306539.1:p.Leu622=
XM_024450772.1:c.810G>T	XP_024306540.1:p.Leu270=
NM_000263.4:c.1809G>T MANE Select	NP_000254.2:p.Leu603=