Canonical Allele Identifier: CA200766397
Gene: ABO HGNC NCBI

Linked Data

ClinVar Variation Id: 769757
ClinVar RCV Id: RCV000948820
dbSNP Id: rs512770
gnomAD v3: 9-133258116-G-A
gnomAD v4: 9-133258116-G-A
MyVariant Identifiers: chr9:g.133258116G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133258116G>A , CM000671.2:g.133258116G>A GRCh38
NG_006669.1:g.19548C>T
NG_006669.2:g.22099C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.250C>T
ENST00000647353.1:n.54-6964C>T
ENST00000651471.1:n.255C>T
ENST00000679909.1:c.28+17046C>T ENSP00000506089.1:n.28+17046C>T
ENST00000453660.3:n.232C>T
ENST00000538324.2:c.220C>T ENSP00000483018.1:p.Pro74Ser
ENST00000611156.4:c.220C>T ENSP00000483265.1:p.Pro74Ser
NM_020469.2:c.220C>T NP_065202.2:p.Pro74Ser
NM_020469.3:c.220C>T NP_065202.2:p.Pro74Ser
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