Canonical Allele Identifier: CA399606568
Gene: NAGLU HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42544236T>G , CM000679.2:g.42544236T>G GRCh38
NC_000017.10:g.40696254T>G , CM000679.1:g.40696254T>G GRCh37
NC_000017.9:g.37949780T>G NCBI36
NG_011552.1:g.13304T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.2230T>G MANE Select ENSP00000225927.1:p.Ter744Gly
ENST00000225927.6:c.2230T>G ENSP00000225927.1:p.Ter744Gly
NM_000263.3:c.2230T>G NP_000254.2:p.Ter744Gly
XM_006721920.2:c.1399T>G XP_006721983.1:p.Ter467Gly
XM_011524840.1:c.1231T>G XP_011523142.1:p.Ter411Gly
XM_017024687.1:c.1399T>G XP_016880176.1:p.Ter467Gly
XM_024450771.1:c.2287T>G XP_024306539.1:p.Ter763Gly
XM_024450772.1:c.1231T>G XP_024306540.1:p.Ter411Gly
NM_000263.4:c.2230T>G MANE Select NP_000254.2:p.Ter744Gly