Canonical Allele Identifier: CA399600399

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42541193-G-T
• MyVariant Identifiers: chr17:g.40693211G>T (hg19) ; chr17:g.42541193G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541193G>T , CM000679.2:g.42541193G>T	GRCh38
NC_000017.10:g.40693211G>T , CM000679.1:g.40693211G>T	GRCh37
NC_000017.9:g.37946737G>T	NCBI36
NG_011552.1:g.10261G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1008G>T MANE Select	ENSP00000225927.1:p.Glu336Asp
ENST00000225927.6:c.1008G>T	ENSP00000225927.1:p.Glu336Asp
ENST00000591587.1:c.360-1835G>T	ENSP00000467836.1:n.360-1835G>T
ENST00000592454.1:c.103G>T
NM_000263.3:c.1008G>T	NP_000254.2:p.Glu336Asp
XM_006721920.2:c.177G>T	XP_006721983.1:p.Glu59Asp
XM_011524840.1:c.23-1835G>T	XP_011523142.1:n.23-1835G>T
XM_017024687.1:c.177G>T	XP_016880176.1:p.Glu59Asp
XM_024450771.1:c.1065G>T	XP_024306539.1:p.Glu355Asp
XM_024450772.1:c.23-1835G>T	XP_024306540.1:n.23-1835G>T
NM_000263.4:c.1008G>T MANE Select	NP_000254.2:p.Glu336Asp