Canonical Allele Identifier: CA374563011
Gene: ALAD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.113389033C>A , CM000671.2:g.113389033C>A GRCh38
NC_000009.11:g.116151313C>A , CM000671.1:g.116151313C>A GRCh37
NC_000009.10:g.115191134C>A NCBI36
NG_008716.1:g.17306G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409155.8:c.875G>T MANE Select ENSP00000386284.3:p.Gly292Val
ENST00000409155.7:c.875G>T ENSP00000386284.3:p.Gly292Val
ENST00000482847.5:n.1148G>T
NM_000031.5:c.875G>T NP_000022.3:p.Gly292Val
XM_005251799.1:c.962G>T XP_005251856.1:p.Gly321Val
XM_011518363.1:c.1001G>T XP_011516665.1:p.Gly334Val
XM_011518364.1:c.902G>T XP_011516666.1:p.Gly301Val
NM_001003945.2:c.962G>T NP_001003945.1:p.Gly321Val
NM_001317745.1:c.851G>T NP_001304674.1:p.Gly284Val
XM_011518364.2:c.902G>T XP_011516666.1:p.Gly301Val
XM_024447449.1:c.962G>T XP_024303217.1:p.Gly321Val
NM_000031.6:c.875G>T MANE Select NP_000022.3:p.Gly292Val
NM_001003945.3:c.962G>T NP_001003945.1:p.Gly321Val
NM_001317745.2:c.851G>T NP_001304674.1:p.Gly284Val