Canonical Allele Identifier: CA399595787
Gene: NAGLU HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536517G>C , CM000679.2:g.42536517G>C GRCh38
NC_000017.10:g.40688535G>C , CM000679.1:g.40688535G>C GRCh37
NC_000017.9:g.37942061G>C NCBI36
NG_011552.1:g.5585G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.245G>C MANE Select ENSP00000225927.1:p.Gly82Ala
ENST00000225927.6:c.245G>C ENSP00000225927.1:p.Gly82Ala
NM_000263.3:c.245G>C NP_000254.2:p.Gly82Ala
XM_024450771.1:c.245G>C XP_024306539.1:p.Gly82Ala
NM_000263.4:c.245G>C MANE Select NP_000254.2:p.Gly82Ala