Canonical Allele Identifier: CA374562933
Gene: ALAD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.113388994G>T , CM000671.2:g.113388994G>T GRCh38
NC_000009.11:g.116151274G>T , CM000671.1:g.116151274G>T GRCh37
NC_000009.10:g.115191095G>T NCBI36
NG_008716.1:g.17345C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409155.8:c.914C>A MANE Select ENSP00000386284.3:p.Thr305Asn
ENST00000409155.7:c.914C>A ENSP00000386284.3:p.Thr305Asn
ENST00000482847.5:n.1187C>A
NM_000031.5:c.914C>A NP_000022.3:p.Thr305Asn
XM_005251799.1:c.1001C>A XP_005251856.1:p.Thr334Asn
XM_011518363.1:c.1040C>A XP_011516665.1:p.Thr347Asn
XM_011518364.1:c.941C>A XP_011516666.1:p.Thr314Asn
NM_001003945.2:c.1001C>A NP_001003945.1:p.Thr334Asn
NM_001317745.1:c.890C>A NP_001304674.1:p.Thr297Asn
XM_011518364.2:c.941C>A XP_011516666.1:p.Thr314Asn
XM_024447449.1:c.1001C>A XP_024303217.1:p.Thr334Asn
NM_000031.6:c.914C>A MANE Select NP_000022.3:p.Thr305Asn
NM_001003945.3:c.1001C>A NP_001003945.1:p.Thr334Asn
NM_001317745.2:c.890C>A NP_001304674.1:p.Thr297Asn