Canonical Allele Identifier: CA399600283

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 1722249
• ClinVar RCV Id: RCV002295261
• MyVariant Identifiers: chr17:g.40693154G>C (hg19) ; chr17:g.42541136G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541136G>C , CM000679.2:g.42541136G>C	GRCh38
NC_000017.10:g.40693154G>C , CM000679.1:g.40693154G>C	GRCh37
NC_000017.9:g.37946680G>C	NCBI36
NG_011552.1:g.10204G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.951G>C MANE Select	ENSP00000225927.1:p.Met317Ile
ENST00000225927.6:c.951G>C	ENSP00000225927.1:p.Met317Ile
ENST00000591587.1:c.360-1892G>C	ENSP00000467836.1:n.360-1892G>C
ENST00000592454.1:c.46G>C
NM_000263.3:c.951G>C	NP_000254.2:p.Met317Ile
XM_006721920.2:c.120G>C	XP_006721983.1:p.Met40Ile
XM_011524840.1:c.23-1892G>C	XP_011523142.1:n.23-1892G>C
XM_017024687.1:c.120G>C	XP_016880176.1:p.Met40Ile
XM_024450771.1:c.1008G>C	XP_024306539.1:p.Met336Ile
XM_024450772.1:c.23-1892G>C	XP_024306540.1:n.23-1892G>C
NM_000263.4:c.951G>C MANE Select	NP_000254.2:p.Met317Ile