Canonical Allele Identifier: CA399604516

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40695722G>C (hg19) ; chr17:g.42543704G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543704G>C , CM000679.2:g.42543704G>C	GRCh38
NC_000017.10:g.40695722G>C , CM000679.1:g.40695722G>C	GRCh37
NC_000017.9:g.37949248G>C	NCBI36
NG_011552.1:g.12772G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1698G>C MANE Select	ENSP00000225927.1:p.Gln566His
ENST00000225927.6:c.1698G>C	ENSP00000225927.1:p.Gln566His
ENST00000591587.1:c.1036G>C	ENSP00000467836.1:n.1036G>C
NM_000263.3:c.1698G>C	NP_000254.2:p.Gln566His
XM_006721920.2:c.867G>C	XP_006721983.1:p.Gln289His
XM_011524840.1:c.699G>C	XP_011523142.1:p.Gln233His
XM_017024687.1:c.867G>C	XP_016880176.1:p.Gln289His
XM_024450771.1:c.1755G>C	XP_024306539.1:p.Gln585His
XM_024450772.1:c.699G>C	XP_024306540.1:p.Gln233His
NM_000263.4:c.1698G>C MANE Select	NP_000254.2:p.Gln566His