Canonical Allele Identifier: CA399598446

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40690411C>A (hg19) ; chr17:g.42538393C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538393C>A , CM000679.2:g.42538393C>A	GRCh38
NC_000017.10:g.40690411C>A , CM000679.1:g.40690411C>A	GRCh37
NC_000017.9:g.37943937C>A	NCBI36
NG_011552.1:g.7461C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000225927.7:c.586C>A MANE Select	ENSP00000225927.1:p.Pro196Thr
ENST00000225927.6:c.586C>A	ENSP00000225927.1:p.Pro196Thr
ENST00000586516.5:c.188C>A
ENST00000591587.1:c.181C>A	ENSP00000467836.1:p.Pro61Thr
NM_000263.3:c.586C>A	NP_000254.2:p.Pro196Thr
XM_006721920.2:c.-157C>A	XP_006721983.1:n.-157C>A
XM_011524840.1:c.-157C>A	XP_011523142.1:n.-157C>A
XM_017024687.1:c.-157C>A	XP_016880176.1:n.-157C>A
XM_024450771.1:c.643C>A	XP_024306539.1:p.Pro215Thr
XM_024450772.1:c.-157C>A	XP_024306540.1:n.-157C>A
NM_000263.4:c.586C>A MANE Select	NP_000254.2:p.Pro196Thr