Canonical Allele Identifier: CA1631147
Gene: HAAO HGNC NCBI
MTA3 HGNC NCBI
COSMIC:
COSM4133842 (not active)
MyVariant.info:
GRCh38 chr2:g.42788579T>C
GRCh37 chr2:g.43015719T>C
Revel Score:
ENST00000294973 (MANE Select) 0.053
ENST00000431905 0.053
gnomAD v2:
2:43015719 T / C
gnomAD v3:
2:42788579 T / C
gnomAD v4:
chr2-42788579-T-C
Joint Max Group AF 0.91604904 (SAS)
Genomes Max Group AF 0.90062601 (SAS)
Exomes Max Group AF 0.91579275 (SAS)
ClinVar RCV:
RCV001702050
ClinVar Variation:
1285322
dbSNP:
3816183
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.42788579T>C , CM000664.2:g.42788579T>C GRCh38
NC_000002.11:g.43015719T>C , CM000664.1:g.43015719T>C GRCh37
NC_000002.10:g.42869223T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000294973.11:c.109A>G (HAAO) MANE Select ENSP00000294973.6:p.Ile37Val
ENST00000294973.10:c.109A>G (HAAO) ENSP00000294973.6:p.Ile37Val
ENST00000402268.1:n.140A>G (HAAO)
ENST00000402698.6:n.147A>G (HAAO)
ENST00000404451.7:n.104A>G (HAAO)
ENST00000406924.6:n.166A>G (HAAO)
ENST00000431905.1:c.7A>G (HAAO) ENSP00000412601.1:p.Ile3Val
NM_012205.2:c.109A>G (HAAO) NP_036337.2:p.Ile37Val
XM_005264230.2:c.109A>G (HAAO) XP_005264287.1:p.Ile37Val
XM_011532729.1:c.109A>G (HAAO) XP_011531031.1:p.Ile37Val
XM_011532730.1:c.7A>G (HAAO) XP_011531032.1:p.Ile3Val
XM_011532731.1:c.109A>G (HAAO) XP_011531033.1:p.Ile37Val
XR_939697.1:n.2056-3642T>C (MTA3)
XM_005264230.4:c.109A>G (HAAO) XP_005264287.1:p.Ile37Val
XM_011532729.3:c.109A>G (HAAO) XP_011531031.1:p.Ile37Val
XM_011532730.3:c.7A>G (HAAO) XP_011531032.1:p.Ile3Val
XM_011532731.3:c.109A>G (HAAO) XP_011531033.1:p.Ile37Val
XM_017003717.2:c.7A>G (HAAO) XP_016859206.1:p.Ile3Val
XM_024452774.1:c.109A>G (HAAO) XP_024308542.1:p.Ile37Val
XM_024452775.1:c.7A>G (HAAO) XP_024308543.1:p.Ile3Val
XR_001738859.2:n.2059-3642T>C (MTA3)
XR_939697.3:n.2059-3642T>C (MTA3)
NM_012205.3:c.109A>G (HAAO) MANE Select NP_036337.2:p.Ile37Val
Search 100 bp 5'
Search 100 bp 3'