Canonical Allele Identifier: CA412071657

Gene: ALG12

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.49903975A>G , CM000684.2:g.49903975A>G	GRCh38
NC_000022.10:g.50297623A>G , CM000684.1:g.50297623A>G	GRCh37
NC_000022.9:g.48683627A>G	NCBI36
NG_008927.1:g.19484T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024105.4:c.1330T>C MANE Select	NP_077010.1:p.Tyr444His
ENST00000330817.11:c.1330T>C MANE Select	ENSP00000333813.5:p.Tyr444His
NM_024105.3:c.1330T>C	NP_077010.1:p.Tyr444His
ENST00000330817.10:c.1330T>C	ENSP00000333813.5:p.Tyr444His
ENST00000486602.1:c.445-96T>C
ENST00000492791.1:c.739T>C
XM_011530369.1:c.1238+204T>C	XP_011528671.1:n.1238+204T>C
XM_011530370.1:c.1238+204T>C	XP_011528672.1:n.1238+204T>C
XM_017028936.1:c.1238+204T>C	XP_016884425.1:n.1238+204T>C
XM_017028937.1:c.1238+204T>C	XP_016884426.1:n.1238+204T>C