Canonical Allele Identifier: CA2260527910

Gene: NAGLU

Linked Data

• dbSNP Id: rs2092913373
• gnomAD v4: 17-42538569-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538569G>T , CM000679.2:g.42538569G>T	GRCh38
NC_000017.10:g.40690587G>T , CM000679.1:g.40690587G>T	GRCh37
NC_000017.9:g.37944113G>T	NCBI36
NG_011552.1:g.7637G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.678+84G>T MANE Select	ENSP00000225927.1:n.678+84G>T
ENST00000225927.6:c.678+84G>T	ENSP00000225927.1:n.678+84G>T
ENST00000586516.5:c.280+84G>T
ENST00000591587.1:c.273+84G>T	ENSP00000467836.1:n.273+84G>T
NM_000263.3:c.678+84G>T	NP_000254.2:n.678+84G>T
XM_006721920.2:c.-65+84G>T	XP_006721983.1:n.-65+84G>T
XM_011524840.1:c.-65+84G>T	XP_011523142.1:n.-65+84G>T
XM_017024687.1:c.-65+84G>T	XP_016880176.1:n.-65+84G>T
XM_024450771.1:c.735+84G>T	XP_024306539.1:n.735+84G>T
XM_024450772.1:c.-65+84G>T	XP_024306540.1:n.-65+84G>T
NM_000263.4:c.678+84G>T MANE Select	NP_000254.2:n.678+84G>T