Canonical Allele Identifier: CA13002558
Gene: ABO HGNC NCBI

Linked Data

dbSNP Id: rs8176715
gnomAD v2: 9-136133148-T-C
gnomAD v3: 9-133257761-T-C
gnomAD v4: 9-133257761-T-C
MyVariant Identifiers: chr9:g.136133148T>C (hg19) chr9:g.133257761T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133257761T>C , CM000671.2:g.133257761T>C GRCh38
NC_000009.11:g.136133148T>C , CM000671.1:g.136133148T>C GRCh37
NC_000009.10:g.135122969T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.270-219A>G
ENST00000647353.1:n.54-6609A>G
ENST00000651471.1:n.329+281A>G
ENST00000679909.1:c.28+17401A>G ENSP00000506089.1:n.28+17401A>G
ENST00000453660.3:n.252-219A>G
ENST00000538324.2:c.240-219A>G ENSP00000483018.1:n.240-219A>G
ENST00000611156.4:c.240-219A>G ENSP00000483265.1:n.240-219A>G
NM_020469.2:c.240-219A>G NP_065202.2:n.240-219A>G
NM_020469.3:c.240-219A>G NP_065202.2:n.240-219A>G
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