Canonical Allele Identifier: CA2260527412
Community Standard Title: NM_000263.4(NAGLU):c.531+50G=
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42537595G= , CM000679.2:g.42537595G= GRCh38
NC_000017.10:g.40689613G= , CM000679.1:g.40689613G= GRCh37
NC_000017.9:g.37943139G= NCBI36
NG_011552.1:g.6663G=

Transcript Alleles

HGVS Amino-acid Change
NM_000263.4:c.531+50G= MANE Select NP_000254.2:n.531+50G=
ENST00000225927.7:c.531+50G= MANE Select ENSP00000225927.1:n.531+50G=
NM_000263.3:c.531+50G= NP_000254.2:n.531+50G=
ENST00000225927.6:c.531+50G= ENSP00000225927.1:n.531+50G=
ENST00000586516.5:c.134-744G=
ENST00000590358.1:c.219+50G= ENSP00000466892.1:n.219+50G=
ENST00000591587.1:c.127-744G= ENSP00000467836.1:n.127-744G=
XM_006721920.2:c.-212+50G= XP_006721983.1:n.-212+50G=
XM_011524840.1:c.-212+50G= XP_011523142.1:n.-212+50G=
XM_017024687.1:c.-212+50G= XP_016880176.1:n.-212+50G=
XM_024450771.1:c.588+50G= XP_024306539.1:n.588+50G=
XM_024450772.1:c.-212+50G= XP_024306540.1:n.-212+50G=