Canonical Allele Identifier: CA500216499

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 2100338
• ClinVar RCV Id: RCV003025866
• MyVariant Identifiers: chr17:g.40690726C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538708C>T , CM000679.2:g.42538708C>T	GRCh38
NC_000017.10:g.40690726C>T , CM000679.1:g.40690726C>T	GRCh37
NC_000017.9:g.37944252C>T	NCBI36
NG_011552.1:g.7776C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000225927.7:c.717C>T MANE Select	ENSP00000225927.1:p.Thr239=
ENST00000225927.6:c.717C>T	ENSP00000225927.1:p.Thr239=
ENST00000586516.5:c.319C>T
ENST00000591587.1:c.312C>T	ENSP00000467836.1:p.Thr104=
NM_000263.3:c.717C>T	NP_000254.2:p.Thr239=
XM_006721920.2:c.-26C>T	XP_006721983.1:n.-26C>T
XM_011524840.1:c.-26C>T	XP_011523142.1:n.-26C>T
XM_017024687.1:c.-26C>T	XP_016880176.1:n.-26C>T
XM_024450771.1:c.774C>T	XP_024306539.1:p.Thr258=
XM_024450772.1:c.-26C>T	XP_024306540.1:n.-26C>T
NM_000263.4:c.717C>T MANE Select	NP_000254.2:p.Thr239=