Canonical Allele Identifier: CA374564908
Gene: ALAD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.113391526C>G , CM000671.2:g.113391526C>G GRCh38
NC_000009.11:g.116153806C>G , CM000671.1:g.116153806C>G GRCh37
NC_000009.10:g.115193627C>G NCBI36
NG_008716.1:g.14813G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409155.8:c.261+1G>C MANE Select ENSP00000386284.3:n.261+1G>C
ENST00000409155.7:c.261+1G>C ENSP00000386284.3:n.261+1G>C
ENST00000448137.5:c.288+1G>C ENSP00000392748.1:n.288+1G>C
ENST00000464749.5:n.258-593G>C
ENST00000468504.5:n.383+1G>C
ENST00000482001.1:n.534+1G>C
ENST00000482847.5:n.534+1G>C
NM_000031.5:c.261+1G>C NP_000022.3:n.261+1G>C
XM_005251799.1:c.348+1G>C XP_005251856.1:n.348+1G>C
XM_011518363.1:c.387+1G>C XP_011516665.1:n.387+1G>C
XM_011518364.1:c.288+1G>C XP_011516666.1:n.288+1G>C
NM_001003945.2:c.348+1G>C NP_001003945.1:n.348+1G>C
NM_001317745.1:c.237+1G>C NP_001304674.1:n.237+1G>C
XM_011518364.2:c.288+1G>C XP_011516666.1:n.288+1G>C
XM_024447449.1:c.348+1G>C XP_024303217.1:n.348+1G>C
XR_002956764.1:n.761+1G>C
NM_000031.6:c.261+1G>C MANE Select NP_000022.3:n.261+1G>C
NM_001003945.3:c.348+1G>C NP_001003945.1:n.348+1G>C
NM_001317745.2:c.237+1G>C NP_001304674.1:n.237+1G>C