Canonical Allele Identifier: CA399595849
Gene: NAGLU HGNC NCBI

Linked Data

gnomAD v4: 17-42536535-G-T
MyVariant Identifiers: chr17:g.40688553G>T (hg19) chr17:g.42536535G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536535G>T , CM000679.2:g.42536535G>T GRCh38
NC_000017.10:g.40688553G>T , CM000679.1:g.40688553G>T GRCh37
NC_000017.9:g.37942079G>T NCBI36
NG_011552.1:g.5603G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.263G>T MANE Select ENSP00000225927.1:p.Gly88Val
ENST00000225927.6:c.263G>T ENSP00000225927.1:p.Gly88Val
ENST00000586516.5:c.13G>T
ENST00000591587.1:c.6G>T ENSP00000467836.1:p.Gly2=
NM_000263.3:c.263G>T NP_000254.2:p.Gly88Val
XM_024450771.1:c.263G>T XP_024306539.1:p.Gly88Val
NM_000263.4:c.263G>T MANE Select NP_000254.2:p.Gly88Val
Search 100 bp 5'
Search 100 bp 3'