Canonical Allele Identifier: CA399606128
Gene: NAGLU HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42544094G>T , CM000679.2:g.42544094G>T GRCh38
NC_000017.10:g.40696112G>T , CM000679.1:g.40696112G>T GRCh37
NC_000017.9:g.37949638G>T NCBI36
NG_011552.1:g.13162G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.2088G>T MANE Select ENSP00000225927.1:p.Gln696His
ENST00000225927.6:c.2088G>T ENSP00000225927.1:p.Gln696His
ENST00000591587.1:c.1426G>T ENSP00000467836.1:n.1426G>T
NM_000263.3:c.2088G>T NP_000254.2:p.Gln696His
XM_006721920.2:c.1257G>T XP_006721983.1:p.Gln419His
XM_011524840.1:c.1089G>T XP_011523142.1:p.Gln363His
XM_017024687.1:c.1257G>T XP_016880176.1:p.Gln419His
XM_024450771.1:c.2145G>T XP_024306539.1:p.Gln715His
XM_024450772.1:c.1089G>T XP_024306540.1:p.Gln363His
NM_000263.4:c.2088G>T MANE Select NP_000254.2:p.Gln696His