Canonical Allele Identifier: CA2203696678
Community Standard Title: NM_019109.5(ALG1):c.450C= (p.Ser150=)
Gene: ALG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.5075447C= , CM000678.2:g.5075447C= GRCh38
NC_000016.9:g.5125448C= , CM000678.1:g.5125448C= GRCh37
NC_000016.8:g.5065449C= NCBI36
NG_009202.1:g.8639C=

Transcript Alleles

HGVS Amino-acid Change
NM_019109.5:c.450C= MANE Select NP_061982.3:p.Ser150=
ENST00000262374.10:c.450C= MANE Select ENSP00000262374.5:p.Ser150=
NM_001330504.1:c.117C= NP_001317433.1:p.Ser39=
NM_001330504.2:c.117C= NP_001317433.1:p.Ser39=
NM_019109.4:c.450C= NP_061982.3:p.Ser150=
ENST00000262374.9:c.450C= ENSP00000262374.4:p.Ser150=
ENST00000544428.1:c.117C= ENSP00000440019.1:p.Ser39=
ENST00000586840.1:c.440C= ENSP00000467538.1:p.Ala147=
ENST00000588623.5:c.117C= ENSP00000468118.1:p.Ser39=
ENST00000591783.5:c.117C= ENSP00000464700.1:p.Ser39=
ENST00000591822.5:c.*351C= ENSP00000467865.1:n.*351C=
ENST00000592793.6:n.2588C=
ENST00000650085.1:n.1270C=
ENST00000682020.1:c.-55-1998C= ENSP00000508075.1:n.-55-1998C=
ENST00000682206.1:c.450C= ENSP00000508285.1:p.Ser150=
ENST00000682314.1:n.494C=
ENST00000682327.1:c.-40C= ENSP00000507058.1:n.-40C=
ENST00000682349.1:n.2588C=
ENST00000682703.1:n.2588C=
ENST00000682797.1:c.450C= ENSP00000507582.1:p.Ser150=
ENST00000682985.1:c.-40C= ENSP00000507598.1:n.-40C=
ENST00000683433.1:c.-55-1998C= ENSP00000507463.1:n.-55-1998C=
ENST00000683685.1:n.494C=
ENST00000683710.1:c.*413C= ENSP00000506785.1:n.*413C=
ENST00000683739.1:c.117C= ENSP00000507002.1:p.Ser39=
ENST00000683772.1:n.494C=
ENST00000684008.1:c.384C= ENSP00000507962.1:p.Ser128=
ENST00000684190.1:c.450C= ENSP00000507554.1:p.Ser150=
ENST00000684335.1:c.450C= ENSP00000508112.1:p.Ser150=
XM_011522565.1:c.117C= XP_011520867.1:p.Ser39=
XM_017023457.2:c.450C= XP_016878946.1:p.Ser150=
XM_017023458.1:c.117C= XP_016878947.1:p.Ser39=
XR_932882.1:n.491C=
XR_932882.3:n.475C=