Canonical Allele Identifier: CA500216359

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 2128309
• ClinVar RCV Id: RCV003036271
• dbSNP Id: rs1361122249
• gnomAD v2: 17-40690413-T-G
• gnomAD v4: 17-42538395-T-G
• MyVariant Identifiers: chr17:g.40690413T>G (hg19) ; chr17:g.42538395T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538395T>G , CM000679.2:g.42538395T>G	GRCh38
NC_000017.10:g.40690413T>G , CM000679.1:g.40690413T>G	GRCh37
NC_000017.9:g.37943939T>G	NCBI36
NG_011552.1:g.7463T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000225927.7:c.588T>G MANE Select	ENSP00000225927.1:p.Pro196=
ENST00000225927.6:c.588T>G	ENSP00000225927.1:p.Pro196=
ENST00000586516.5:c.190T>G
ENST00000591587.1:c.183T>G	ENSP00000467836.1:p.Pro61=
NM_000263.3:c.588T>G	NP_000254.2:p.Pro196=
XM_006721920.2:c.-155T>G	XP_006721983.1:n.-155T>G
XM_011524840.1:c.-155T>G	XP_011523142.1:n.-155T>G
XM_017024687.1:c.-155T>G	XP_016880176.1:n.-155T>G
XM_024450771.1:c.645T>G	XP_024306539.1:p.Pro215=
XM_024450772.1:c.-155T>G	XP_024306540.1:n.-155T>G
NM_000263.4:c.588T>G MANE Select	NP_000254.2:p.Pro196=