Canonical Allele Identifier: CA2580597693
Community Standard Title: NM_000031.6(ALAD):c.262-139A>C
Gene: ALAD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.113391072T>G , CM000671.2:g.113391072T>G GRCh38
NC_000009.11:g.116153352T>G , CM000671.1:g.116153352T>G GRCh37
NC_000009.10:g.115193173T>G NCBI36
NG_008716.1:g.15267A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000031.6:c.262-139A>C MANE Select NP_000022.3:n.262-139A>C
ENST00000409155.8:c.262-139A>C MANE Select ENSP00000386284.3:n.262-139A>C
NM_000031.5:c.262-139A>C NP_000022.3:n.262-139A>C
NM_001003945.2:c.349-139A>C NP_001003945.1:n.349-139A>C
NM_001003945.3:c.349-139A>C NP_001003945.1:n.349-139A>C
NM_001317745.1:c.238-139A>C NP_001304674.1:n.238-139A>C
NM_001317745.2:c.238-139A>C NP_001304674.1:n.238-139A>C
ENST00000409155.7:c.262-139A>C ENSP00000386284.3:n.262-139A>C
ENST00000448137.5:c.289-139A>C ENSP00000392748.1:n.289-139A>C
ENST00000464749.5:n.258-139A>C
ENST00000468504.5:n.384-139A>C
ENST00000482001.1:n.535-139A>C
ENST00000482847.5:n.535-139A>C
XM_005251799.1:c.349-139A>C XP_005251856.1:n.349-139A>C
XM_011518363.1:c.388-139A>C XP_011516665.1:n.388-139A>C
XM_011518364.1:c.289-139A>C XP_011516666.1:n.289-139A>C
XM_011518364.2:c.289-139A>C XP_011516666.1:n.289-139A>C
XM_024447449.1:c.349-139A>C XP_024303217.1:n.349-139A>C
XR_002956764.1:n.762-139A>C