Canonical Allele Identifier: CA198545546
Gene: ALAD HGNC NCBI

Linked Data

dbSNP Id: rs905106024

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.113389001C>A , CM000671.2:g.113389001C>A GRCh38
NC_000009.11:g.116151281C>A , CM000671.1:g.116151281C>A GRCh37
NC_000009.10:g.115191102C>A NCBI36
NG_008716.1:g.17338G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000409155.8:c.907G>T MANE Select ENSP00000386284.3:p.Ala303Ser
ENST00000409155.7:c.907G>T ENSP00000386284.3:p.Ala303Ser
ENST00000482847.5:n.1180G>T
NM_000031.5:c.907G>T NP_000022.3:p.Ala303Ser
XM_005251799.1:c.994G>T XP_005251856.1:p.Ala332Ser
XM_011518363.1:c.1033G>T XP_011516665.1:p.Ala345Ser
XM_011518364.1:c.934G>T XP_011516666.1:p.Ala312Ser
NM_001003945.2:c.994G>T NP_001003945.1:p.Ala332Ser
NM_001317745.1:c.883G>T NP_001304674.1:p.Ala295Ser
XM_011518364.2:c.934G>T XP_011516666.1:p.Ala312Ser
XM_024447449.1:c.994G>T XP_024303217.1:p.Ala332Ser
NM_000031.6:c.907G>T MANE Select NP_000022.3:p.Ala303Ser
NM_001003945.3:c.994G>T NP_001003945.1:p.Ala332Ser
NM_001317745.2:c.883G>T NP_001304674.1:p.Ala295Ser