Canonical Allele Identifier: CA500216332

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42538380-G-A
• MyVariant Identifiers: chr17:g.40690398G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538380G>A , CM000679.2:g.42538380G>A	GRCh38
NC_000017.10:g.40690398G>A , CM000679.1:g.40690398G>A	GRCh37
NC_000017.9:g.37943924G>A	NCBI36
NG_011552.1:g.7448G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.573G>A MANE Select	ENSP00000225927.1:p.Glu191=
ENST00000225927.6:c.573G>A	ENSP00000225927.1:p.Glu191=
ENST00000586516.5:c.175G>A
ENST00000591587.1:c.168G>A	ENSP00000467836.1:p.Glu56=
NM_000263.3:c.573G>A	NP_000254.2:p.Glu191=
XM_006721920.2:c.-170G>A	XP_006721983.1:n.-170G>A
XM_011524840.1:c.-170G>A	XP_011523142.1:n.-170G>A
XM_017024687.1:c.-170G>A	XP_016880176.1:n.-170G>A
XM_024450771.1:c.630G>A	XP_024306539.1:p.Glu210=
XM_024450772.1:c.-170G>A	XP_024306540.1:n.-170G>A
NM_000263.4:c.573G>A MANE Select	NP_000254.2:p.Glu191=