Canonical Allele Identifier: CA399595874
Gene: NAGLU HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536539G>C , CM000679.2:g.42536539G>C GRCh38
NC_000017.10:g.40688557G>C , CM000679.1:g.40688557G>C GRCh37
NC_000017.9:g.37942083G>C NCBI36
NG_011552.1:g.5607G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.267G>C MANE Select ENSP00000225927.1:p.Leu89=
ENST00000225927.6:c.267G>C ENSP00000225927.1:p.Leu89=
ENST00000586516.5:c.17G>C
ENST00000591587.1:c.10G>C ENSP00000467836.1:p.Ala4Pro
NM_000263.3:c.267G>C NP_000254.2:p.Leu89=
XM_024450771.1:c.267G>C XP_024306539.1:p.Leu89=
NM_000263.4:c.267G>C MANE Select NP_000254.2:p.Leu89=