Canonical Allele Identifier: CA399599788

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40692995G>T (hg19) ; chr17:g.42540977G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42540977G>T , CM000679.2:g.42540977G>T	GRCh38
NC_000017.10:g.40692995G>T , CM000679.1:g.40692995G>T	GRCh37
NC_000017.9:g.37946521G>T	NCBI36
NG_011552.1:g.10045G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.792G>T MANE Select	ENSP00000225927.1:p.Lys264Asn
ENST00000225927.6:c.792G>T	ENSP00000225927.1:p.Lys264Asn
ENST00000586516.5:c.394G>T
ENST00000591587.1:c.360-2051G>T	ENSP00000467836.1:n.360-2051G>T
NM_000263.3:c.792G>T	NP_000254.2:p.Lys264Asn
XM_006721920.2:c.23-62G>T	XP_006721983.1:n.23-62G>T
XM_011524840.1:c.23-2051G>T	XP_011523142.1:n.23-2051G>T
XM_017024687.1:c.23-62G>T	XP_016880176.1:n.23-62G>T
XM_024450771.1:c.849G>T	XP_024306539.1:p.Lys283Asn
XM_024450772.1:c.23-2051G>T	XP_024306540.1:n.23-2051G>T
NM_000263.4:c.792G>T MANE Select	NP_000254.2:p.Lys264Asn