Canonical Allele Identifier: CA374565195
Gene: ALAD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.113391613T>G , CM000671.2:g.113391613T>G GRCh38
NC_000009.11:g.116153893T>G , CM000671.1:g.116153893T>G GRCh37
NC_000009.10:g.115193714T>G NCBI36
NG_008716.1:g.14726A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409155.8:c.175A>C MANE Select ENSP00000386284.3:p.Lys59Gln
ENST00000409155.7:c.175A>C ENSP00000386284.3:p.Lys59Gln
ENST00000448137.5:c.202A>C ENSP00000392748.1:p.Lys68Gln
ENST00000464749.5:n.258-680A>C
ENST00000468504.5:n.297A>C
ENST00000482001.1:n.448A>C
ENST00000482847.5:n.448A>C
NM_000031.5:c.175A>C NP_000022.3:p.Lys59Gln
XM_005251799.1:c.262A>C XP_005251856.1:p.Lys88Gln
XM_011518363.1:c.301A>C XP_011516665.1:p.Lys101Gln
XM_011518364.1:c.202A>C XP_011516666.1:p.Lys68Gln
NM_001003945.2:c.262A>C NP_001003945.1:p.Lys88Gln
NM_001317745.1:c.151A>C NP_001304674.1:p.Lys51Gln
XM_011518364.2:c.202A>C XP_011516666.1:p.Lys68Gln
XM_024447449.1:c.262A>C XP_024303217.1:p.Lys88Gln
XR_002956764.1:n.675A>C
NM_000031.6:c.175A>C MANE Select NP_000022.3:p.Lys59Gln
NM_001003945.3:c.262A>C NP_001003945.1:p.Lys88Gln
NM_001317745.2:c.151A>C NP_001304674.1:p.Lys51Gln