Canonical Allele Identifier: CA399596157
Gene: NAGLU HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.40688625G>C (hg19) chr17:g.42536607G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536607G>C , CM000679.2:g.42536607G>C GRCh38
NC_000017.10:g.40688625G>C , CM000679.1:g.40688625G>C GRCh37
NC_000017.9:g.37942151G>C NCBI36
NG_011552.1:g.5675G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.335G>C MANE Select ENSP00000225927.1:p.Arg112Pro
ENST00000225927.6:c.335G>C ENSP00000225927.1:p.Arg112Pro
ENST00000586516.5:c.85G>C
ENST00000591587.1:c.78G>C ENSP00000467836.1:p.Ala26=
NM_000263.3:c.335G>C NP_000254.2:p.Arg112Pro
XM_006721920.2:c.-408G>C XP_006721983.1:n.-408G>C
XM_011524840.1:c.-408G>C XP_011523142.1:n.-408G>C
XM_024450771.1:c.335G>C XP_024306539.1:p.Arg112Pro
NM_000263.4:c.335G>C MANE Select NP_000254.2:p.Arg112Pro
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