Canonical Allele Identifier: CA7877662

Gene: UBALD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4609776G>C , CM000678.2:g.4609776G>C	GRCh38
NC_000016.9:g.4659777G>C , CM000678.1:g.4659777G>C	GRCh37
NC_000016.8:g.4599778G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_145253.3:c.391C>G MANE Select	NP_660296.1:p.Pro131Ala
ENST00000283474.12:c.391C>G MANE Select	ENSP00000283474.6:p.Pro131Ala
NM_001330467.1:c.316C>G	NP_001317396.1:p.Pro106Ala
NM_001330467.2:c.316C>G	NP_001317396.1:p.Pro106Ala
NM_145253.2:c.391C>G	NP_660296.1:p.Pro131Ala
ENST00000283474.11:c.391C>G	ENSP00000283474.6:p.Pro131Ala
ENST00000587615.1:c.316C>G	ENSP00000466404.1:p.Pro106Ala
ENST00000587649.1:c.*207C>G	ENSP00000465745.1:n.*207C>G
ENST00000588691.1:c.34-724C>G	ENSP00000465041.1:n.34-724C>G
ENST00000590891.1:c.496C>G	ENSP00000465706.1:p.Pro166Ala
ENST00000590965.1:c.*207C>G	ENSP00000466361.1:n.*207C>G
ENST00000591401.5:c.328C>G	ENSP00000467671.1:p.Pro110Ala
ENST00000591897.5:c.211C>G	ENSP00000464725.1:p.Pro71Ala