Canonical Allele Identifier: CA399598650

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538445C>T , CM000679.2:g.42538445C>T	GRCh38
NC_000017.10:g.40690463C>T , CM000679.1:g.40690463C>T	GRCh37
NC_000017.9:g.37943989C>T	NCBI36
NG_011552.1:g.7513C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.638C>T MANE Select	NP_000254.2:p.Pro213Leu
ENST00000225927.7:c.638C>T MANE Select	ENSP00000225927.1:p.Pro213Leu
NM_000263.3:c.638C>T	NP_000254.2:p.Pro213Leu
ENST00000225927.6:c.638C>T	ENSP00000225927.1:p.Pro213Leu
ENST00000586516.5:c.240C>T
ENST00000591587.1:c.233C>T	ENSP00000467836.1:p.Pro78Leu
XM_006721920.2:c.-105C>T	XP_006721983.1:n.-105C>T
XM_011524840.1:c.-105C>T	XP_011523142.1:n.-105C>T
XM_017024687.1:c.-105C>T	XP_016880176.1:n.-105C>T
XM_024450771.1:c.695C>T	XP_024306539.1:p.Pro232Leu
XM_024450772.1:c.-105C>T	XP_024306540.1:n.-105C>T