Canonical Allele Identifier: CA399605623

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40695980A>C (hg19) ; chr17:g.42543962A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543962A>C , CM000679.2:g.42543962A>C	GRCh38
NC_000017.10:g.40695980A>C , CM000679.1:g.40695980A>C	GRCh37
NC_000017.9:g.37949506A>C	NCBI36
NG_011552.1:g.13030A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000225927.7:c.1956A>C MANE Select	ENSP00000225927.1:p.Glu652Asp
ENST00000225927.6:c.1956A>C	ENSP00000225927.1:p.Glu652Asp
ENST00000591587.1:c.1294A>C	ENSP00000467836.1:n.1294A>C
NM_000263.3:c.1956A>C	NP_000254.2:p.Glu652Asp
XM_006721920.2:c.1125A>C	XP_006721983.1:p.Glu375Asp
XM_011524840.1:c.957A>C	XP_011523142.1:p.Glu319Asp
XM_017024687.1:c.1125A>C	XP_016880176.1:p.Glu375Asp
XM_024450771.1:c.2013A>C	XP_024306539.1:p.Glu671Asp
XM_024450772.1:c.957A>C	XP_024306540.1:p.Glu319Asp
NM_000263.4:c.1956A>C MANE Select	NP_000254.2:p.Glu652Asp