Canonical Allele Identifier: CA500216538

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40692977T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42540959T>G , CM000679.2:g.42540959T>G	GRCh38
NC_000017.10:g.40692977T>G , CM000679.1:g.40692977T>G	GRCh37
NC_000017.9:g.37946503T>G	NCBI36
NG_011552.1:g.10027T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.774T>G MANE Select	ENSP00000225927.1:p.Pro258=
ENST00000225927.6:c.774T>G	ENSP00000225927.1:p.Pro258=
ENST00000586516.5:c.376T>G
ENST00000591587.1:c.360-2069T>G	ENSP00000467836.1:n.360-2069T>G
NM_000263.3:c.774T>G	NP_000254.2:p.Pro258=
XM_006721920.2:c.23-80T>G	XP_006721983.1:n.23-80T>G
XM_011524840.1:c.23-2069T>G	XP_011523142.1:n.23-2069T>G
XM_017024687.1:c.23-80T>G	XP_016880176.1:n.23-80T>G
XM_024450771.1:c.831T>G	XP_024306539.1:p.Pro277=
XM_024450772.1:c.23-2069T>G	XP_024306540.1:n.23-2069T>G
NM_000263.4:c.774T>G MANE Select	NP_000254.2:p.Pro258=