Canonical Allele Identifier: CA399600257

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541126T>C , CM000679.2:g.42541126T>C	GRCh38
NC_000017.10:g.40693144T>C , CM000679.1:g.40693144T>C	GRCh37
NC_000017.9:g.37946670T>C	NCBI36
NG_011552.1:g.10194T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.941T>C MANE Select	NP_000254.2:p.Phe314Ser
ENST00000225927.7:c.941T>C MANE Select	ENSP00000225927.1:p.Phe314Ser
NM_000263.3:c.941T>C	NP_000254.2:p.Phe314Ser
ENST00000225927.6:c.941T>C	ENSP00000225927.1:p.Phe314Ser
ENST00000591587.1:c.360-1902T>C	ENSP00000467836.1:n.360-1902T>C
ENST00000592454.1:c.36T>C
XM_006721920.2:c.110T>C	XP_006721983.1:p.Phe37Ser
XM_011524840.1:c.23-1902T>C	XP_011523142.1:n.23-1902T>C
XM_017024687.1:c.110T>C	XP_016880176.1:p.Phe37Ser
XM_024450771.1:c.998T>C	XP_024306539.1:p.Phe333Ser
XM_024450772.1:c.23-1902T>C	XP_024306540.1:n.23-1902T>C