Canonical Allele Identifier: CA399606412

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40696221A>C (hg19) ; chr17:g.42544203A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544203A>C , CM000679.2:g.42544203A>C	GRCh38
NC_000017.10:g.40696221A>C , CM000679.1:g.40696221A>C	GRCh37
NC_000017.9:g.37949747A>C	NCBI36
NG_011552.1:g.13271A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2197A>C MANE Select	ENSP00000225927.1:p.Lys733Gln
ENST00000225927.6:c.2197A>C	ENSP00000225927.1:p.Lys733Gln
NM_000263.3:c.2197A>C	NP_000254.2:p.Lys733Gln
XM_006721920.2:c.1366A>C	XP_006721983.1:p.Lys456Gln
XM_011524840.1:c.1198A>C	XP_011523142.1:p.Lys400Gln
XM_017024687.1:c.1366A>C	XP_016880176.1:p.Lys456Gln
XM_024450771.1:c.2254A>C	XP_024306539.1:p.Lys752Gln
XM_024450772.1:c.1198A>C	XP_024306540.1:p.Lys400Gln
NM_000263.4:c.2197A>C MANE Select	NP_000254.2:p.Lys733Gln