Canonical Allele Identifier: CA399596223

Gene: NAGLU

Linked Data

• dbSNP Id: rs1323765705
• gnomAD v4: 17-42536619-C-T
• MyVariant Identifiers: chr17:g.40688637C>T (hg19) ; chr17:g.42536619C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536619C>T , CM000679.2:g.42536619C>T	GRCh38
NC_000017.10:g.40688637C>T , CM000679.1:g.40688637C>T	GRCh37
NC_000017.9:g.37942163C>T	NCBI36
NG_011552.1:g.5687C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.347C>T MANE Select	ENSP00000225927.1:p.Ala116Val
ENST00000225927.6:c.347C>T	ENSP00000225927.1:p.Ala116Val
ENST00000586516.5:c.97C>T
ENST00000591587.1:c.90C>T	ENSP00000467836.1:p.Ser30=
NM_000263.3:c.347C>T	NP_000254.2:p.Ala116Val
XM_006721920.2:c.-396C>T	XP_006721983.1:n.-396C>T
XM_011524840.1:c.-396C>T	XP_011523142.1:n.-396C>T
XM_024450771.1:c.347C>T	XP_024306539.1:p.Ala116Val
NM_000263.4:c.347C>T MANE Select	NP_000254.2:p.Ala116Val