Canonical Allele Identifier: CA374562898
Gene: ALAD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.113388977C>A , CM000671.2:g.113388977C>A GRCh38
NC_000009.11:g.116151257C>A , CM000671.1:g.116151257C>A GRCh37
NC_000009.10:g.115191078C>A NCBI36
NG_008716.1:g.17362G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409155.8:c.931G>T MANE Select ENSP00000386284.3:p.Gly311Cys
ENST00000409155.7:c.931G>T ENSP00000386284.3:p.Gly311Cys
ENST00000482847.5:n.1204G>T
NM_000031.5:c.931G>T NP_000022.3:p.Gly311Cys
XM_005251799.1:c.1018G>T XP_005251856.1:p.Gly340Cys
XM_011518363.1:c.1057G>T XP_011516665.1:p.Gly353Cys
XM_011518364.1:c.958G>T XP_011516666.1:p.Gly320Cys
NM_001003945.2:c.1018G>T NP_001003945.1:p.Gly340Cys
NM_001317745.1:c.907G>T NP_001304674.1:p.Gly303Cys
XM_011518364.2:c.958G>T XP_011516666.1:p.Gly320Cys
XM_024447449.1:c.1018G>T XP_024303217.1:p.Gly340Cys
NM_000031.6:c.931G>T MANE Select NP_000022.3:p.Gly311Cys
NM_001003945.3:c.1018G>T NP_001003945.1:p.Gly340Cys
NM_001317745.2:c.907G>T NP_001304674.1:p.Gly303Cys