Canonical Allele Identifier: CA399595187

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40688361A>T (hg19) ; chr17:g.42536343A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536343A>T , CM000679.2:g.42536343A>T	GRCh38
NC_000017.10:g.40688361A>T , CM000679.1:g.40688361A>T	GRCh37
NC_000017.9:g.37941887A>T	NCBI36
NG_011552.1:g.5411A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.71A>T MANE Select	ENSP00000225927.1:p.Asp24Val
ENST00000225927.6:c.71A>T	ENSP00000225927.1:p.Asp24Val
NM_000263.3:c.71A>T	NP_000254.2:p.Asp24Val
XM_024450771.1:c.71A>T	XP_024306539.1:p.Asp24Val
NM_000263.4:c.71A>T MANE Select	NP_000254.2:p.Asp24Val