Canonical Allele Identifier: CA8577007

Gene: NAGLU

Linked Data

• dbSNP Id: rs776800328
• ExAC: 17:40695384 G / T
• gnomAD v2: 17-40695384-G-T
• gnomAD v4: 17-42543366-G-T
• MyVariant Identifiers: chr17:g.40695384G>T (hg19) ; chr17:g.42543366G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543366G>T , CM000679.2:g.42543366G>T	GRCh38
NC_000017.10:g.40695384G>T , CM000679.1:g.40695384G>T	GRCh37
NC_000017.9:g.37948910G>T	NCBI36
NG_011552.1:g.12434G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1360G>T MANE Select	ENSP00000225927.1:p.Val454Phe
ENST00000225927.6:c.1360G>T	ENSP00000225927.1:p.Val454Phe
ENST00000591587.1:c.698G>T	ENSP00000467836.1:n.698G>T
ENST00000592454.1:c.399G>T
NM_000263.3:c.1360G>T	NP_000254.2:p.Val454Phe
XM_006721920.2:c.529G>T	XP_006721983.1:p.Val177Phe
XM_011524840.1:c.361G>T	XP_011523142.1:p.Val121Phe
XM_017024687.1:c.529G>T	XP_016880176.1:p.Val177Phe
XM_024450771.1:c.1417G>T	XP_024306539.1:p.Val473Phe
XM_024450772.1:c.361G>T	XP_024306540.1:p.Val121Phe
NM_000263.4:c.1360G>T MANE Select	NP_000254.2:p.Val454Phe