Canonical Allele Identifier: CA5196330
Gene: ALAD HGNC NCBI

Linked Data

dbSNP Id: rs367823672

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.113389045C>G , CM000671.2:g.113389045C>G GRCh38
NC_000009.11:g.116151325C>G , CM000671.1:g.116151325C>G GRCh37
NC_000009.10:g.115191146C>G NCBI36
NG_008716.1:g.17294G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409155.8:c.863G>C MANE Select ENSP00000386284.3:p.Gly288Ala
ENST00000409155.7:c.863G>C ENSP00000386284.3:p.Gly288Ala
ENST00000482847.5:n.1136G>C
NM_000031.5:c.863G>C NP_000022.3:p.Gly288Ala
XM_005251799.1:c.950G>C XP_005251856.1:p.Gly317Ala
XM_011518363.1:c.989G>C XP_011516665.1:p.Gly330Ala
XM_011518364.1:c.890G>C XP_011516666.1:p.Gly297Ala
NM_001003945.2:c.950G>C NP_001003945.1:p.Gly317Ala
NM_001317745.1:c.839G>C NP_001304674.1:p.Gly280Ala
XM_011518364.2:c.890G>C XP_011516666.1:p.Gly297Ala
XM_024447449.1:c.950G>C XP_024303217.1:p.Gly317Ala
NM_000031.6:c.863G>C MANE Select NP_000022.3:p.Gly288Ala
NM_001003945.3:c.950G>C NP_001003945.1:p.Gly317Ala
NM_001317745.2:c.839G>C NP_001304674.1:p.Gly280Ala