Canonical Allele Identifier: CA399600284
Gene: NAGLU HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42541136G>T , CM000679.2:g.42541136G>T GRCh38
NC_000017.10:g.40693154G>T , CM000679.1:g.40693154G>T GRCh37
NC_000017.9:g.37946680G>T NCBI36
NG_011552.1:g.10204G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.951G>T MANE Select ENSP00000225927.1:p.Met317Ile
ENST00000225927.6:c.951G>T ENSP00000225927.1:p.Met317Ile
ENST00000591587.1:c.360-1892G>T ENSP00000467836.1:n.360-1892G>T
ENST00000592454.1:c.46G>T
NM_000263.3:c.951G>T NP_000254.2:p.Met317Ile
XM_006721920.2:c.120G>T XP_006721983.1:p.Met40Ile
XM_011524840.1:c.23-1892G>T XP_011523142.1:n.23-1892G>T
XM_017024687.1:c.120G>T XP_016880176.1:p.Met40Ile
XM_024450771.1:c.1008G>T XP_024306539.1:p.Met336Ile
XM_024450772.1:c.23-1892G>T XP_024306540.1:n.23-1892G>T
NM_000263.4:c.951G>T MANE Select NP_000254.2:p.Met317Ile