Canonical Allele Identifier: CA399598452

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40690414G>A (hg19) ; chr17:g.42538396G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538396G>A , CM000679.2:g.42538396G>A	GRCh38
NC_000017.10:g.40690414G>A , CM000679.1:g.40690414G>A	GRCh37
NC_000017.9:g.37943940G>A	NCBI36
NG_011552.1:g.7464G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000225927.7:c.589G>A MANE Select	ENSP00000225927.1:p.Ala197Thr
ENST00000225927.6:c.589G>A	ENSP00000225927.1:p.Ala197Thr
ENST00000586516.5:c.191G>A
ENST00000591587.1:c.184G>A	ENSP00000467836.1:p.Ala62Thr
NM_000263.3:c.589G>A	NP_000254.2:p.Ala197Thr
XM_006721920.2:c.-154G>A	XP_006721983.1:n.-154G>A
XM_011524840.1:c.-154G>A	XP_011523142.1:n.-154G>A
XM_017024687.1:c.-154G>A	XP_016880176.1:n.-154G>A
XM_024450771.1:c.646G>A	XP_024306539.1:p.Ala216Thr
XM_024450772.1:c.-154G>A	XP_024306540.1:n.-154G>A
NM_000263.4:c.589G>A MANE Select	NP_000254.2:p.Ala197Thr