Canonical Allele Identifier: CA399595855
Gene: NAGLU HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536536G>C , CM000679.2:g.42536536G>C GRCh38
NC_000017.10:g.40688554G>C , CM000679.1:g.40688554G>C GRCh37
NC_000017.9:g.37942080G>C NCBI36
NG_011552.1:g.5604G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.264G>C MANE Select ENSP00000225927.1:p.Gly88=
ENST00000225927.6:c.264G>C ENSP00000225927.1:p.Gly88=
ENST00000586516.5:c.14G>C
ENST00000591587.1:c.7G>C ENSP00000467836.1:p.Ala3Pro
NM_000263.3:c.264G>C NP_000254.2:p.Gly88=
XM_024450771.1:c.264G>C XP_024306539.1:p.Gly88=
NM_000263.4:c.264G>C MANE Select NP_000254.2:p.Gly88=