Canonical Allele Identifier: CA500217039

Gene: NAGLU

Linked Data

• dbSNP Id: rs1233220699
• gnomAD v2: 17-40695569-C-T
• gnomAD v4: 17-42543551-C-T
• MyVariant Identifiers: chr17:g.40695569C>T (hg19) ; chr17:g.42543551C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543551C>T , CM000679.2:g.42543551C>T	GRCh38
NC_000017.10:g.40695569C>T , CM000679.1:g.40695569C>T	GRCh37
NC_000017.9:g.37949095C>T	NCBI36
NG_011552.1:g.12619C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1545C>T MANE Select	ENSP00000225927.1:p.Ser515=
ENST00000225927.6:c.1545C>T	ENSP00000225927.1:p.Ser515=
ENST00000591587.1:c.883C>T	ENSP00000467836.1:n.883C>T
NM_000263.3:c.1545C>T	NP_000254.2:p.Ser515=
XM_006721920.2:c.714C>T	XP_006721983.1:p.Ser238=
XM_011524840.1:c.546C>T	XP_011523142.1:p.Ser182=
XM_017024687.1:c.714C>T	XP_016880176.1:p.Ser238=
XM_024450771.1:c.1602C>T	XP_024306539.1:p.Ser534=
XM_024450772.1:c.546C>T	XP_024306540.1:p.Ser182=
NM_000263.4:c.1545C>T MANE Select	NP_000254.2:p.Ser515=