Canonical Allele Identifier: CA399601213

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543148T>C , CM000679.2:g.42543148T>C	GRCh38
NC_000017.10:g.40695166T>C , CM000679.1:g.40695166T>C	GRCh37
NC_000017.9:g.37948692T>C	NCBI36
NG_011552.1:g.12216T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.1142T>C MANE Select	NP_000254.2:p.Leu381Pro
ENST00000225927.7:c.1142T>C MANE Select	ENSP00000225927.1:p.Leu381Pro
NM_000263.3:c.1142T>C	NP_000254.2:p.Leu381Pro
ENST00000225927.6:c.1142T>C	ENSP00000225927.1:p.Leu381Pro
ENST00000591587.1:c.480T>C	ENSP00000467836.1:n.480T>C
ENST00000592454.1:c.181T>C
XM_006721920.2:c.311T>C	XP_006721983.1:p.Leu104Pro
XM_011524840.1:c.143T>C	XP_011523142.1:p.Leu48Pro
XM_017024687.1:c.311T>C	XP_016880176.1:p.Leu104Pro
XM_024450771.1:c.1199T>C	XP_024306539.1:p.Leu400Pro
XM_024450772.1:c.143T>C	XP_024306540.1:p.Leu48Pro