Canonical Allele Identifier: CA399605534
Gene: NAGLU HGNC NCBI

Linked Data

dbSNP Id: rs2092929837

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543939C>T , CM000679.2:g.42543939C>T GRCh38
NC_000017.10:g.40695957C>T , CM000679.1:g.40695957C>T GRCh37
NC_000017.9:g.37949483C>T NCBI36
NG_011552.1:g.13007C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000225927.7:c.1933C>T MANE Select ENSP00000225927.1:p.Gln645Ter
ENST00000225927.6:c.1933C>T ENSP00000225927.1:p.Gln645Ter
ENST00000591587.1:c.1271C>T ENSP00000467836.1:n.1271C>T
NM_000263.3:c.1933C>T NP_000254.2:p.Gln645Ter
XM_006721920.2:c.1102C>T XP_006721983.1:p.Gln368Ter
XM_011524840.1:c.934C>T XP_011523142.1:p.Gln312Ter
XM_017024687.1:c.1102C>T XP_016880176.1:p.Gln368Ter
XM_024450771.1:c.1990C>T XP_024306539.1:p.Gln664Ter
XM_024450772.1:c.934C>T XP_024306540.1:p.Gln312Ter
NM_000263.4:c.1933C>T MANE Select NP_000254.2:p.Gln645Ter