Canonical Allele Identifier: CA500216313

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40690380C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538362C>A , CM000679.2:g.42538362C>A	GRCh38
NC_000017.10:g.40690380C>A , CM000679.1:g.40690380C>A	GRCh37
NC_000017.9:g.37943906C>A	NCBI36
NG_011552.1:g.7430C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.555C>A MANE Select	ENSP00000225927.1:p.Thr185=
ENST00000225927.6:c.555C>A	ENSP00000225927.1:p.Thr185=
ENST00000586516.5:c.157C>A
ENST00000590358.1:c.243C>A	ENSP00000466892.1:p.Thr81=
ENST00000591587.1:c.150C>A	ENSP00000467836.1:p.Thr50=
NM_000263.3:c.555C>A	NP_000254.2:p.Thr185=
XM_006721920.2:c.-188C>A	XP_006721983.1:n.-188C>A
XM_011524840.1:c.-188C>A	XP_011523142.1:n.-188C>A
XM_017024687.1:c.-188C>A	XP_016880176.1:n.-188C>A
XM_024450771.1:c.612C>A	XP_024306539.1:p.Thr204=
XM_024450772.1:c.-188C>A	XP_024306540.1:n.-188C>A
NM_000263.4:c.555C>A MANE Select	NP_000254.2:p.Thr185=