Canonical Allele Identifier: CA2637966570

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42536736-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536736A>T , CM000679.2:g.42536736A>T	GRCh38
NC_000017.10:g.40688754A>T , CM000679.1:g.40688754A>T	GRCh37
NC_000017.9:g.37942280A>T	NCBI36
NG_011552.1:g.5804A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.383+81A>T MANE Select	ENSP00000225927.1:n.383+81A>T
ENST00000225927.6:c.383+81A>T	ENSP00000225927.1:n.383+81A>T
ENST00000586516.5:c.133+81A>T
ENST00000591587.1:c.126+81A>T	ENSP00000467836.1:n.126+81A>T
NM_000263.3:c.383+81A>T	NP_000254.2:n.383+81A>T
XM_006721920.2:c.-360+81A>T	XP_006721983.1:n.-360+81A>T
XM_011524840.1:c.-360+81A>T	XP_011523142.1:n.-360+81A>T
XM_024450771.1:c.384-81A>T	XP_024306539.1:n.384-81A>T
NM_000263.4:c.383+81A>T MANE Select	NP_000254.2:n.383+81A>T