Canonical Allele Identifier: CA2637969856

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 2932545
• ClinVar RCV Id: RCV003797711
• gnomAD v4: 17-42538325-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538325C>T , CM000679.2:g.42538325C>T	GRCh38
NC_000017.10:g.40690343C>T , CM000679.1:g.40690343C>T	GRCh37
NC_000017.9:g.37943869C>T	NCBI36
NG_011552.1:g.7393C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.532-14C>T MANE Select	ENSP00000225927.1:n.532-14C>T
ENST00000225927.6:c.532-14C>T	ENSP00000225927.1:n.532-14C>T
ENST00000586516.5:c.134-14C>T
ENST00000590358.1:c.220-14C>T	ENSP00000466892.1:n.220-14C>T
ENST00000591587.1:c.127-14C>T	ENSP00000467836.1:n.127-14C>T
NM_000263.3:c.532-14C>T	NP_000254.2:n.532-14C>T
XM_006721920.2:c.-211-14C>T	XP_006721983.1:n.-211-14C>T
XM_011524840.1:c.-211-14C>T	XP_011523142.1:n.-211-14C>T
XM_017024687.1:c.-211-14C>T	XP_016880176.1:n.-211-14C>T
XM_024450771.1:c.589-14C>T	XP_024306539.1:n.589-14C>T
XM_024450772.1:c.-211-14C>T	XP_024306540.1:n.-211-14C>T
NM_000263.4:c.532-14C>T MANE Select	NP_000254.2:n.532-14C>T