Canonical Allele Identifier: CA8577176

Gene: NAGLU

Linked Data

• dbSNP Id: rs775408315
• ExAC: 17:40696296 A / T
• gnomAD v2: 17-40696296-A-T
• gnomAD v4: 17-42544278-A-T
• MyVariant Identifiers: chr17:g.40696296A>T (hg19) ; chr17:g.42544278A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544278A>T , CM000679.2:g.42544278A>T	GRCh38
NC_000017.10:g.40696296A>T , CM000679.1:g.40696296A>T	GRCh37
NC_000017.9:g.37949822A>T	NCBI36
NG_011552.1:g.13346A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.*40A>T MANE Select	ENSP00000225927.1:n.*40A>T
ENST00000225927.6:c.*40A>T	ENSP00000225927.1:n.*40A>T
NM_000263.3:c.*40A>T	NP_000254.2:n.*40A>T
XM_006721920.2:c.*40A>T	XP_006721983.1:n.*40A>T
XM_011524840.1:c.*40A>T	XP_011523142.1:n.*40A>T
XM_017024687.1:c.*40A>T	XP_016880176.1:n.*40A>T
XM_024450771.1:c.*40A>T	XP_024306539.1:n.*40A>T
XM_024450772.1:c.*40A>T	XP_024306540.1:n.*40A>T
NM_000263.4:c.*40A>T MANE Select	NP_000254.2:n.*40A>T