Canonical Allele Identifier: CA127357
Gene: ABO HGNC NCBI
ClinVar RCV:
RCV000019313
ClinVar Variation:
17739
dbSNP:
55722397
gnomAD v2:
9:136131418 G / C
gnomAD v4:
chr9-133256031-G-C
MyVariant.info:
GRCh38 chr9:g.133256031G>C
GRCh37 chr9:g.136131418G>C
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256031G>C , CM000671.2:g.133256031G>C GRCh38
NC_000009.11:g.136131418G>C , CM000671.1:g.136131418G>C GRCh37
NC_000009.10:g.135121239G>C NCBI36
NG_006669.1:g.21637C>G
NG_006669.2:g.24185C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.729C>G
ENST00000647353.1:n.54-4879C>G
ENST00000679909.1:c.28+19131C>G ENSP00000506089.1:n.28+19131C>G
ENST00000453660.3:n.711C>G
ENST00000538324.2:c.697C>G ENSP00000483018.1:p.Pro233Ala
ENST00000611156.4:c.697C>G ENSP00000483265.1:p.Pro233Ala
NM_020469.2:c.700C>G NP_065202.2:p.Pro234Ala
NM_020469.3:c.700C>G NP_065202.2:p.Pro234Ala
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