Canonical Allele Identifier: CA399595879

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42536541-A-T
• MyVariant Identifiers: chr17:g.40688559A>T (hg19) ; chr17:g.42536541A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536541A>T , CM000679.2:g.42536541A>T	GRCh38
NC_000017.10:g.40688559A>T , CM000679.1:g.40688559A>T	GRCh37
NC_000017.9:g.37942085A>T	NCBI36
NG_011552.1:g.5609A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.269A>T MANE Select	ENSP00000225927.1:p.His90Leu
ENST00000225927.6:c.269A>T	ENSP00000225927.1:p.His90Leu
ENST00000586516.5:c.19A>T
ENST00000591587.1:c.12A>T	ENSP00000467836.1:p.Ala4=
NM_000263.3:c.269A>T	NP_000254.2:p.His90Leu
XM_006721920.2:c.-474A>T	XP_006721983.1:n.-474A>T
XM_011524840.1:c.-474A>T	XP_011523142.1:n.-474A>T
XM_024450771.1:c.269A>T	XP_024306539.1:p.His90Leu
NM_000263.4:c.269A>T MANE Select	NP_000254.2:p.His90Leu