Canonical Allele Identifier: CA399599167

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538757T>C , CM000679.2:g.42538757T>C	GRCh38
NC_000017.10:g.40690775T>C , CM000679.1:g.40690775T>C	GRCh37
NC_000017.9:g.37944301T>C	NCBI36
NG_011552.1:g.7825T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.764+2T>C MANE Select	NP_000254.2:n.764+2T>C
ENST00000225927.7:c.764+2T>C MANE Select	ENSP00000225927.1:n.764+2T>C
NM_000263.3:c.764+2T>C	NP_000254.2:n.764+2T>C
ENST00000225927.6:c.764+2T>C	ENSP00000225927.1:n.764+2T>C
ENST00000586516.5:c.366+2T>C
ENST00000591587.1:c.359+2T>C	ENSP00000467836.1:n.359+2T>C
XM_006721920.2:c.22+2T>C	XP_006721983.1:n.22+2T>C
XM_011524840.1:c.22+2T>C	XP_011523142.1:n.22+2T>C
XM_017024687.1:c.22+2T>C	XP_016880176.1:n.22+2T>C
XM_024450771.1:c.821+2T>C	XP_024306539.1:n.821+2T>C
XM_024450772.1:c.22+2T>C	XP_024306540.1:n.22+2T>C