Canonical Allele Identifier: CA2637966590

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42536741-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536741G>T , CM000679.2:g.42536741G>T	GRCh38
NC_000017.10:g.40688759G>T , CM000679.1:g.40688759G>T	GRCh37
NC_000017.9:g.37942285G>T	NCBI36
NG_011552.1:g.5809G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.383+86G>T MANE Select	ENSP00000225927.1:n.383+86G>T
ENST00000225927.6:c.383+86G>T	ENSP00000225927.1:n.383+86G>T
ENST00000586516.5:c.133+86G>T
ENST00000591587.1:c.126+86G>T	ENSP00000467836.1:n.126+86G>T
NM_000263.3:c.383+86G>T	NP_000254.2:n.383+86G>T
XM_006721920.2:c.-360+86G>T	XP_006721983.1:n.-360+86G>T
XM_011524840.1:c.-360+86G>T	XP_011523142.1:n.-360+86G>T
XM_024450771.1:c.384-76G>T	XP_024306539.1:n.384-76G>T
NM_000263.4:c.383+86G>T MANE Select	NP_000254.2:n.383+86G>T