Canonical Allele Identifier: CA399595262
Gene: NAGLU HGNC NCBI

Linked Data

gnomAD v4: 17-42536356-G-T
MyVariant Identifiers: chr17:g.40688374G>T (hg19) chr17:g.42536356G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536356G>T , CM000679.2:g.42536356G>T GRCh38
NC_000017.10:g.40688374G>T , CM000679.1:g.40688374G>T GRCh37
NC_000017.9:g.37941900G>T NCBI36
NG_011552.1:g.5424G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.84G>T MANE Select ENSP00000225927.1:p.Glu28Asp
ENST00000225927.6:c.84G>T ENSP00000225927.1:p.Glu28Asp
NM_000263.3:c.84G>T NP_000254.2:p.Glu28Asp
XM_024450771.1:c.84G>T XP_024306539.1:p.Glu28Asp
NM_000263.4:c.84G>T MANE Select NP_000254.2:p.Glu28Asp
Search 100 bp 5'
Search 100 bp 3'