Canonical Allele Identifier: CA7889820
Community Standard Title: NM_019109.5(ALG1):c.391-24C>T
Gene: ALG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.5075364C>T , CM000678.2:g.5075364C>T GRCh38
NC_000016.9:g.5125365C>T , CM000678.1:g.5125365C>T GRCh37
NC_000016.8:g.5065366C>T NCBI36
NG_009202.1:g.8556C>T

Transcript Alleles

HGVS Amino-acid Change
NM_019109.5:c.391-24C>T MANE Select NP_061982.3:n.391-24C>T
ENST00000262374.10:c.391-24C>T MANE Select ENSP00000262374.5:n.391-24C>T
NM_001330504.1:c.58-24C>T NP_001317433.1:n.58-24C>T
NM_001330504.2:c.58-24C>T NP_001317433.1:n.58-24C>T
NM_019109.4:c.391-24C>T NP_061982.3:n.391-24C>T
ENST00000262374.9:c.391-24C>T ENSP00000262374.4:n.391-24C>T
ENST00000544428.1:c.58-24C>T ENSP00000440019.1:n.58-24C>T
ENST00000586840.1:c.391-34C>T ENSP00000467538.1:n.391-34C>T
ENST00000588623.5:c.58-24C>T ENSP00000468118.1:n.58-24C>T
ENST00000591783.5:c.58-24C>T ENSP00000464700.1:n.58-24C>T
ENST00000591822.5:c.*292-24C>T ENSP00000467865.1:n.*292-24C>T
ENST00000592793.6:n.2505C>T
ENST00000650085.1:n.1195-8C>T
ENST00000682020.1:c.-55-2081C>T ENSP00000508075.1:n.-55-2081C>T
ENST00000682206.1:c.391-24C>T ENSP00000508285.1:n.391-24C>T
ENST00000682314.1:n.435-24C>T
ENST00000682327.1:c.-99-24C>T ENSP00000507058.1:n.-99-24C>T
ENST00000682349.1:n.2505C>T
ENST00000682703.1:n.2505C>T
ENST00000682797.1:c.391-24C>T ENSP00000507582.1:n.391-24C>T
ENST00000682985.1:c.-99-24C>T ENSP00000507598.1:n.-99-24C>T
ENST00000683433.1:c.-55-2081C>T ENSP00000507463.1:n.-55-2081C>T
ENST00000683685.1:n.435-24C>T
ENST00000683710.1:c.*330C>T ENSP00000506785.1:n.*330C>T
ENST00000683739.1:c.58-24C>T ENSP00000507002.1:n.58-24C>T
ENST00000683772.1:n.435-24C>T
ENST00000684008.1:c.325-24C>T ENSP00000507962.1:n.325-24C>T
ENST00000684190.1:c.391-24C>T ENSP00000507554.1:n.391-24C>T
ENST00000684335.1:c.391-24C>T ENSP00000508112.1:n.391-24C>T
XM_011522565.1:c.58-24C>T XP_011520867.1:n.58-24C>T
XM_017023457.2:c.391-24C>T XP_016878946.1:n.391-24C>T
XM_017023458.1:c.58-24C>T XP_016878947.1:n.58-24C>T
XR_932882.1:n.432-24C>T
XR_932882.3:n.416-24C>T