Canonical Allele Identifier: CA399595666
Gene: NAGLU HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536484G>T , CM000679.2:g.42536484G>T GRCh38
NC_000017.10:g.40688502G>T , CM000679.1:g.40688502G>T GRCh37
NC_000017.9:g.37942028G>T NCBI36
NG_011552.1:g.5552G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.212G>T MANE Select ENSP00000225927.1:p.Gly71Val
ENST00000225927.6:c.212G>T ENSP00000225927.1:p.Gly71Val
NM_000263.3:c.212G>T NP_000254.2:p.Gly71Val
XM_024450771.1:c.212G>T XP_024306539.1:p.Gly71Val
NM_000263.4:c.212G>T MANE Select NP_000254.2:p.Gly71Val