Canonical Allele Identifier: CA399595490
Gene: NAGLU HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536438C>A , CM000679.2:g.42536438C>A GRCh38
NC_000017.10:g.40688456C>A , CM000679.1:g.40688456C>A GRCh37
NC_000017.9:g.37941982C>A NCBI36
NG_011552.1:g.5506C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.166C>A MANE Select ENSP00000225927.1:p.Leu56Met
ENST00000225927.6:c.166C>A ENSP00000225927.1:p.Leu56Met
NM_000263.3:c.166C>A NP_000254.2:p.Leu56Met
XM_024450771.1:c.166C>A XP_024306539.1:p.Leu56Met
NM_000263.4:c.166C>A MANE Select NP_000254.2:p.Leu56Met