Canonical Allele Identifier: CA8576843

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538741C>T , CM000679.2:g.42538741C>T	GRCh38
NC_000017.10:g.40690759C>T , CM000679.1:g.40690759C>T	GRCh37
NC_000017.9:g.37944285C>T	NCBI36
NG_011552.1:g.7809C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.750C>T MANE Select	NP_000254.2:p.Pro250=
ENST00000225927.7:c.750C>T MANE Select	ENSP00000225927.1:p.Pro250=
NM_000263.3:c.750C>T	NP_000254.2:p.Pro250=
ENST00000225927.6:c.750C>T	ENSP00000225927.1:p.Pro250=
ENST00000586516.5:c.352C>T
ENST00000591587.1:c.345C>T	ENSP00000467836.1:p.Pro115=
XM_006721920.2:c.8C>T	XP_006721983.1:p.Pro3Leu
XM_011524840.1:c.8C>T	XP_011523142.1:p.Pro3Leu
XM_017024687.1:c.8C>T	XP_016880176.1:p.Pro3Leu
XM_024450771.1:c.807C>T	XP_024306539.1:p.Pro269=
XM_024450772.1:c.8C>T	XP_024306540.1:p.Pro3Leu