Canonical Allele Identifier: CA913012312
Gene: NAGLU HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.40688509dup (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536491dup , CM000679.2:g.42536491dup GRCh38
NC_000017.10:g.40688509dup , CM000679.1:g.40688509dup GRCh37
NC_000017.9:g.37942035dup NCBI36
NG_011552.1:g.5559dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.219dup MANE Select ENSP00000225927.1:p.Arg74AlafsTer?
ENST00000225927.6:c.219dup ENSP00000225927.1:p.Arg74AlafsTer?
NM_000263.3:c.219dup NP_000254.2:p.Arg74AlafsTer?
XM_024450771.1:c.219dup XP_024306539.1:p.Arg74AlafsTer?
NM_000263.4:c.219dup MANE Select NP_000254.2:p.Arg74AlafsTer?