Canonical Allele Identifier: CA127357
Gene: ABO HGNC NCBI

Linked Data

ClinVar Variation Id: 17739
ClinVar RCV Id: RCV000019313
dbSNP Id: rs55722397
gnomAD v2: 9-136131418-G-C
gnomAD v4: 9-133256031-G-C
MyVariant Identifiers: chr9:g.136131418G>C (hg19) chr9:g.133256031G>C (hg38)
PubMed: PMID:10462501
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'