Canonical Allele Identifier: CA5306055
Gene: ABO HGNC NCBI

Linked Data

dbSNP Id: rs55876802
ExAC: 9:136137547 C / A
gnomAD v2: 9-136137547-C-A
gnomAD v3: 9-133262144-C-A
gnomAD v4: 9-133262144-C-A
MyVariant Identifiers: chr9:g.136137547C>A (hg19) chr9:g.133262144C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133262144C>A , CM000671.2:g.133262144C>A GRCh38
NC_000009.11:g.136137547C>A , CM000671.1:g.136137547C>A GRCh37
NC_000009.10:g.135127368C>A NCBI36
NG_006669.1:g.15505G>T
NG_006669.2:g.18071G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.83G>T
ENST00000647353.1:n.54-10992G>T
ENST00000651471.1:n.88G>T
ENST00000679909.1:c.28+13018G>T ENSP00000506089.1:n.28+13018G>T
ENST00000453660.3:n.65G>T
ENST00000538324.2:c.53G>T ENSP00000483018.1:p.Arg18Leu
ENST00000611156.4:c.53G>T ENSP00000483265.1:p.Arg18Leu
NM_020469.2:c.53G>T NP_065202.2:p.Arg18Leu
NM_020469.3:c.53G>T NP_065202.2:p.Arg18Leu
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