Canonical Allele Identifier: CA500216480

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40690693G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538675G>T , CM000679.2:g.42538675G>T	GRCh38
NC_000017.10:g.40690693G>T , CM000679.1:g.40690693G>T	GRCh37
NC_000017.9:g.37944219G>T	NCBI36
NG_011552.1:g.7743G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.684G>T MANE Select	ENSP00000225927.1:p.Arg228=
ENST00000225927.6:c.684G>T	ENSP00000225927.1:p.Arg228=
ENST00000586516.5:c.286G>T
ENST00000591587.1:c.279G>T	ENSP00000467836.1:p.Arg93=
NM_000263.3:c.684G>T	NP_000254.2:p.Arg228=
XM_006721920.2:c.-59G>T	XP_006721983.1:n.-59G>T
XM_011524840.1:c.-59G>T	XP_011523142.1:n.-59G>T
XM_017024687.1:c.-59G>T	XP_016880176.1:n.-59G>T
XM_024450771.1:c.741G>T	XP_024306539.1:p.Arg247=
XM_024450772.1:c.-59G>T	XP_024306540.1:n.-59G>T
NM_000263.4:c.684G>T MANE Select	NP_000254.2:p.Arg228=