Canonical Allele Identifier: CA500216005
Gene: NAGLU HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.40688455T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536437T>A , CM000679.2:g.42536437T>A GRCh38
NC_000017.10:g.40688455T>A , CM000679.1:g.40688455T>A GRCh37
NC_000017.9:g.37941981T>A NCBI36
NG_011552.1:g.5505T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.165T>A MANE Select ENSP00000225927.1:p.Ala55=
ENST00000225927.6:c.165T>A ENSP00000225927.1:p.Ala55=
NM_000263.3:c.165T>A NP_000254.2:p.Ala55=
XM_024450771.1:c.165T>A XP_024306539.1:p.Ala55=
NM_000263.4:c.165T>A MANE Select NP_000254.2:p.Ala55=