Canonical Allele Identifier: CA374563010
Gene: ALAD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.113389031C>G , CM000671.2:g.113389031C>G GRCh38
NC_000009.11:g.116151311C>G , CM000671.1:g.116151311C>G GRCh37
NC_000009.10:g.115191132C>G NCBI36
NG_008716.1:g.17308G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409155.8:c.877G>C MANE Select ENSP00000386284.3:p.Ala293Pro
ENST00000409155.7:c.877G>C ENSP00000386284.3:p.Ala293Pro
ENST00000482847.5:n.1150G>C
NM_000031.5:c.877G>C NP_000022.3:p.Ala293Pro
XM_005251799.1:c.964G>C XP_005251856.1:p.Ala322Pro
XM_011518363.1:c.1003G>C XP_011516665.1:p.Ala335Pro
XM_011518364.1:c.904G>C XP_011516666.1:p.Ala302Pro
NM_001003945.2:c.964G>C NP_001003945.1:p.Ala322Pro
NM_001317745.1:c.853G>C NP_001304674.1:p.Ala285Pro
XM_011518364.2:c.904G>C XP_011516666.1:p.Ala302Pro
XM_024447449.1:c.964G>C XP_024303217.1:p.Ala322Pro
NM_000031.6:c.877G>C MANE Select NP_000022.3:p.Ala293Pro
NM_001003945.3:c.964G>C NP_001003945.1:p.Ala322Pro
NM_001317745.2:c.853G>C NP_001304674.1:p.Ala285Pro