Canonical Allele Identifier: CA399598850

Gene: NAGLU

Linked Data

• dbSNP Id: rs146456266
• COSMIC: COSM4753477
• MyVariant Identifiers: chr17:g.40690692G>T (hg19) ; chr17:g.42538674G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538674G>T , CM000679.2:g.42538674G>T	GRCh38
NC_000017.10:g.40690692G>T , CM000679.1:g.40690692G>T	GRCh37
NC_000017.9:g.37944218G>T	NCBI36
NG_011552.1:g.7742G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.683G>T MANE Select	ENSP00000225927.1:p.Arg228Leu
ENST00000225927.6:c.683G>T	ENSP00000225927.1:p.Arg228Leu
ENST00000586516.5:c.285G>T
ENST00000591587.1:c.278G>T	ENSP00000467836.1:p.Arg93Leu
NM_000263.3:c.683G>T	NP_000254.2:p.Arg228Leu
XM_006721920.2:c.-60G>T	XP_006721983.1:n.-60G>T
XM_011524840.1:c.-60G>T	XP_011523142.1:n.-60G>T
XM_017024687.1:c.-60G>T	XP_016880176.1:n.-60G>T
XM_024450771.1:c.740G>T	XP_024306539.1:p.Arg247Leu
XM_024450772.1:c.-60G>T	XP_024306540.1:n.-60G>T
NM_000263.4:c.683G>T MANE Select	NP_000254.2:p.Arg228Leu