ClinGen Allele Registry
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Canonical Allele Identifier:
CA375686784
Gene: ABO
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.136132919C>G (hg19)
chr9:g.133257532C>G (hg38)
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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133257532C>G , CM000671.2:g.133257532C>G
GRCh38
NC_000009.11:g.136132919C>G , CM000671.1:g.136132919C>G
GRCh37
NC_000009.10:g.135122740C>G
NCBI36
NG_006669.1:g.20135G>C
NG_006669.2:g.22683G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000453660.4:n.280G>C
ENST00000647353.1:n.54-6380G>C
ENST00000651471.1:n.329+510G>C
ENST00000679909.1:c.28+17630G>C
ENSP00000506089.1:n.28+17630G>C
ENST00000453660.3:n.262G>C
ENST00000538324.2:c.250G>C
ENSP00000483018.1:p.Val84Leu
ENST00000611156.4:c.250G>C
ENSP00000483265.1:p.Val84Leu
NM_020469.2:c.250G>C
NP_065202.2:p.Val84Leu
NM_020469.3:c.250G>C
NP_065202.2:p.Val84Leu
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