Canonical Allele Identifier: CA201526

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42537595G>C , CM000679.2:g.42537595G>C	GRCh38
NC_000017.10:g.40689613G>C , CM000679.1:g.40689613G>C	GRCh37
NC_000017.9:g.37943139G>C	NCBI36
NG_011552.1:g.6663G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.531+50G>C MANE Select	NP_000254.2:n.531+50G>C
ENST00000225927.7:c.531+50G>C MANE Select	ENSP00000225927.1:n.531+50G>C
NM_000263.3:c.531+50G>C	NP_000254.2:n.531+50G>C
ENST00000225927.6:c.531+50G>C	ENSP00000225927.1:n.531+50G>C
ENST00000586516.5:c.134-744G>C
ENST00000590358.1:c.219+50G>C	ENSP00000466892.1:n.219+50G>C
ENST00000591587.1:c.127-744G>C	ENSP00000467836.1:n.127-744G>C
XM_006721920.2:c.-212+50G>C	XP_006721983.1:n.-212+50G>C
XM_011524840.1:c.-212+50G>C	XP_011523142.1:n.-212+50G>C
XM_017024687.1:c.-212+50G>C	XP_016880176.1:n.-212+50G>C
XM_024450771.1:c.588+50G>C	XP_024306539.1:n.588+50G>C
XM_024450772.1:c.-212+50G>C	XP_024306540.1:n.-212+50G>C