Canonical Allele Identifier: CA399598152

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42537473G>C , CM000679.2:g.42537473G>C	GRCh38
NC_000017.10:g.40689491G>C , CM000679.1:g.40689491G>C	GRCh37
NC_000017.9:g.37943017G>C	NCBI36
NG_011552.1:g.6541G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.459G>C MANE Select	NP_000254.2:p.Glu153Asp
ENST00000225927.7:c.459G>C MANE Select	ENSP00000225927.1:p.Glu153Asp
NM_000263.3:c.459G>C	NP_000254.2:p.Glu153Asp
ENST00000225927.6:c.459G>C	ENSP00000225927.1:p.Glu153Asp
ENST00000586516.5:c.133+818G>C
ENST00000590358.1:c.147G>C	ENSP00000466892.1:p.Glu49Asp
ENST00000591587.1:c.126+818G>C	ENSP00000467836.1:n.126+818G>C
XM_006721920.2:c.-284G>C	XP_006721983.1:n.-284G>C
XM_011524840.1:c.-284G>C	XP_011523142.1:n.-284G>C
XM_017024687.1:c.-284G>C	XP_016880176.1:n.-284G>C
XM_024450771.1:c.516G>C	XP_024306539.1:p.Glu172Asp
XM_024450772.1:c.-284G>C	XP_024306540.1:n.-284G>C