Canonical Allele Identifier: CA399595947

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42536555-G-T
• MyVariant Identifiers: chr17:g.40688573G>T (hg19) ; chr17:g.42536555G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536555G>T , CM000679.2:g.42536555G>T	GRCh38
NC_000017.10:g.40688573G>T , CM000679.1:g.40688573G>T	GRCh37
NC_000017.9:g.37942099G>T	NCBI36
NG_011552.1:g.5623G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.283G>T MANE Select	ENSP00000225927.1:p.Asp95Tyr
ENST00000225927.6:c.283G>T	ENSP00000225927.1:p.Asp95Tyr
ENST00000586516.5:c.33G>T
ENST00000591587.1:c.26G>T	ENSP00000467836.1:p.Arg9Leu
NM_000263.3:c.283G>T	NP_000254.2:p.Asp95Tyr
XM_006721920.2:c.-460G>T	XP_006721983.1:n.-460G>T
XM_011524840.1:c.-460G>T	XP_011523142.1:n.-460G>T
XM_024450771.1:c.283G>T	XP_024306539.1:p.Asp95Tyr
NM_000263.4:c.283G>T MANE Select	NP_000254.2:p.Asp95Tyr