Canonical Allele Identifier: CA5305921
Gene: ABO HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.133257526C>T
GRCh37 chr9:g.136132913C>T
gnomAD v2:
9:136132913 C / T
gnomAD v3:
9:133257526 C / T
gnomAD v4:
chr9-133257526-C-T
Joint Max Group AF 0.00022102 (AMR)
Genomes Max Group AF 0.00008886 (AMR)
Exomes Max Group AF 0.00022394 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133257526C>T , CM000671.2:g.133257526C>T GRCh38
NC_000009.11:g.136132913C>T , CM000671.1:g.136132913C>T GRCh37
NC_000009.10:g.135122734C>T NCBI36
NG_006669.1:g.20141G>A
NG_006669.2:g.22689G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.286G>A
ENST00000647353.1:n.54-6374G>A
ENST00000651471.1:n.329+516G>A
ENST00000679909.1:c.28+17636G>A ENSP00000506089.1:n.28+17636G>A
ENST00000453660.3:n.268G>A
ENST00000538324.2:c.256G>A ENSP00000483018.1:p.Val86Met
ENST00000611156.4:c.256G>A ENSP00000483265.1:p.Val86Met
NM_020469.2:c.256G>A NP_065202.2:p.Val86Met
NM_020469.3:c.256G>A NP_065202.2:p.Val86Met
Search 100 bp 5'
Search 100 bp 3'