Canonical Allele Identifier: CA399605013

Gene: NAGLU

Linked Data

• dbSNP Id: rs1344921864
• gnomAD v2: 17-40695850-T-C
• gnomAD v4: 17-42543832-T-C
• MyVariant Identifiers: chr17:g.40695850T>C (hg19) ; chr17:g.42543832T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543832T>C , CM000679.2:g.42543832T>C	GRCh38
NC_000017.10:g.40695850T>C , CM000679.1:g.40695850T>C	GRCh37
NC_000017.9:g.37949376T>C	NCBI36
NG_011552.1:g.12900T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1826T>C MANE Select	ENSP00000225927.1:p.Val609Ala
ENST00000225927.6:c.1826T>C	ENSP00000225927.1:p.Val609Ala
ENST00000591587.1:c.1164T>C	ENSP00000467836.1:n.1164T>C
NM_000263.3:c.1826T>C	NP_000254.2:p.Val609Ala
XM_006721920.2:c.995T>C	XP_006721983.1:p.Val332Ala
XM_011524840.1:c.827T>C	XP_011523142.1:p.Val276Ala
XM_017024687.1:c.995T>C	XP_016880176.1:p.Val332Ala
XM_024450771.1:c.1883T>C	XP_024306539.1:p.Val628Ala
XM_024450772.1:c.827T>C	XP_024306540.1:p.Val276Ala
NM_000263.4:c.1826T>C MANE Select	NP_000254.2:p.Val609Ala