Canonical Allele Identifier: CA200765570
Gene: ABO HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.133256271C>T
GRCh37 chr9:g.136131658C>T
gnomAD v2:
9:136131658 C / T
gnomAD v3:
9:133256271 C / T
gnomAD v4:
chr9-133256271-C-T
Joint Max Group AF 0.00003474 (AFR)
Genomes Max Group AF 0.00000801 (AFR)
Exomes Max Group AF 0.00003984 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256271C>T , CM000671.2:g.133256271C>T GRCh38
NC_000009.11:g.136131658C>T , CM000671.1:g.136131658C>T GRCh37
NC_000009.10:g.135121479C>T NCBI36
NG_006669.1:g.21397G>A
NG_006669.2:g.23945G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.489G>A
ENST00000647353.1:n.54-5119G>A
ENST00000651471.1:n.415G>A
ENST00000679909.1:c.28+18891G>A ENSP00000506089.1:n.28+18891G>A
ENST00000453660.3:n.471G>A
ENST00000538324.2:c.457G>A ENSP00000483018.1:p.Asp153Asn
ENST00000611156.4:c.457G>A ENSP00000483265.1:p.Asp153Asn
NM_020469.2:c.460G>A NP_065202.2:p.Asp154Asn
NM_020469.3:c.460G>A NP_065202.2:p.Asp154Asn
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