Canonical Allele Identifier: CA200769471
Gene: ABO HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.133268030G>A
gnomAD v3:
9:133268030 G / A
gnomAD v4:
chr9-133268030-G-A
Joint Max Group AF 0.70432499 (AMR)
Genomes Max Group AF 0.70432499 (AMR)
dbSNP:
612169
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133268030G>A , CM000671.2:g.133268030G>A GRCh38
NG_006669.2:g.12185C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.59-5862C>T
ENST00000647353.1:n.53+7132C>T
ENST00000651471.1:n.64-5862C>T
ENST00000679909.1:c.28+7132C>T ENSP00000506089.1:n.28+7132C>T
ENST00000453660.3:n.41-5862C>T
ENST00000538324.2:c.29-5862C>T ENSP00000483018.1:n.29-5862C>T
ENST00000611156.4:c.29-5862C>T ENSP00000483265.1:n.29-5862C>T
NM_020469.2:c.29-5862C>T NP_065202.2:n.29-5862C>T
NM_020469.3:c.29-5862C>T NP_065202.2:n.29-5862C>T
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