ClinGen Allele Registry
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Canonical Allele Identifier:
CA375686108
Gene: ABO
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.136131551C>G (hg19)
chr9:g.133256164C>G (hg38)
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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256164C>G , CM000671.2:g.133256164C>G
GRCh38
NC_000009.11:g.136131551C>G , CM000671.1:g.136131551C>G
GRCh37
NC_000009.10:g.135121372C>G
NCBI36
NG_006669.1:g.21504G>C
NG_006669.2:g.24052G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000453660.4:n.596G>C
ENST00000647353.1:n.54-5012G>C
ENST00000651471.1:n.522G>C
ENST00000679909.1:c.28+18998G>C
ENSP00000506089.1:n.28+18998G>C
ENST00000453660.3:n.578G>C
ENST00000538324.2:c.564G>C
ENSP00000483018.1:p.Met188Ile
ENST00000611156.4:c.564G>C
ENSP00000483265.1:p.Met188Ile
NM_020469.2:c.567G>C
NP_065202.2:p.Met189Ile
NM_020469.3:c.567G>C
NP_065202.2:p.Met189Ile
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