Canonical Allele Identifier: CA10603774

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 280994
• ClinVar RCV Id: RCV000341295 ; RCV001250255 ; RCV003765584
• dbSNP Id: rs886042073
• gnomAD v4: 17-42538692-G-C
• MyVariant Identifiers: chr17:g.40690710G>C (hg19) ; chr17:g.42538692G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538692G>C , CM000679.2:g.42538692G>C	GRCh38
NC_000017.10:g.40690710G>C , CM000679.1:g.40690710G>C	GRCh37
NC_000017.9:g.37944236G>C	NCBI36
NG_011552.1:g.7760G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.701G>C MANE Select	ENSP00000225927.1:p.Arg234Pro
ENST00000225927.6:c.701G>C	ENSP00000225927.1:p.Arg234Pro
ENST00000586516.5:c.303G>C
ENST00000591587.1:c.296G>C	ENSP00000467836.1:p.Arg99Pro
NM_000263.3:c.701G>C	NP_000254.2:p.Arg234Pro
XM_006721920.2:c.-42G>C	XP_006721983.1:n.-42G>C
XM_011524840.1:c.-42G>C	XP_011523142.1:n.-42G>C
XM_017024687.1:c.-42G>C	XP_016880176.1:n.-42G>C
XM_024450771.1:c.758G>C	XP_024306539.1:p.Arg253Pro
XM_024450772.1:c.-42G>C	XP_024306540.1:n.-42G>C
NM_000263.4:c.701G>C MANE Select	NP_000254.2:p.Arg234Pro