Canonical Allele Identifier: CA374562964
Gene: ALAD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.113389009A>G , CM000671.2:g.113389009A>G GRCh38
NC_000009.11:g.116151289A>G , CM000671.1:g.116151289A>G GRCh37
NC_000009.10:g.115191110A>G NCBI36
NG_008716.1:g.17330T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409155.8:c.899T>C MANE Select ENSP00000386284.3:p.Val300Ala
ENST00000409155.7:c.899T>C ENSP00000386284.3:p.Val300Ala
ENST00000482847.5:n.1172T>C
NM_000031.5:c.899T>C NP_000022.3:p.Val300Ala
XM_005251799.1:c.986T>C XP_005251856.1:p.Val329Ala
XM_011518363.1:c.1025T>C XP_011516665.1:p.Val342Ala
XM_011518364.1:c.926T>C XP_011516666.1:p.Val309Ala
NM_001003945.2:c.986T>C NP_001003945.1:p.Val329Ala
NM_001317745.1:c.875T>C NP_001304674.1:p.Val292Ala
XM_011518364.2:c.926T>C XP_011516666.1:p.Val309Ala
XM_024447449.1:c.986T>C XP_024303217.1:p.Val329Ala
NM_000031.6:c.899T>C MANE Select NP_000022.3:p.Val300Ala
NM_001003945.3:c.986T>C NP_001003945.1:p.Val329Ala
NM_001317745.2:c.875T>C NP_001304674.1:p.Val292Ala