Canonical Allele Identifier: CA399606570
Gene: NAGLU HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42544237G>T , CM000679.2:g.42544237G>T GRCh38
NC_000017.10:g.40696255G>T , CM000679.1:g.40696255G>T GRCh37
NC_000017.9:g.37949781G>T NCBI36
NG_011552.1:g.13305G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.2231G>T MANE Select ENSP00000225927.1:p.Ter744Leu
ENST00000225927.6:c.2231G>T ENSP00000225927.1:p.Ter744Leu
NM_000263.3:c.2231G>T NP_000254.2:p.Ter744Leu
XM_006721920.2:c.1400G>T XP_006721983.1:p.Ter467Leu
XM_011524840.1:c.1232G>T XP_011523142.1:p.Ter411Leu
XM_017024687.1:c.1400G>T XP_016880176.1:p.Ter467Leu
XM_024450771.1:c.2288G>T XP_024306539.1:p.Ter763Leu
XM_024450772.1:c.1232G>T XP_024306540.1:p.Ter411Leu
NM_000263.4:c.2231G>T MANE Select NP_000254.2:p.Ter744Leu