Canonical Allele Identifier: CA375686527
Gene: ABO HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.136132797T>C (hg19) chr9:g.133257410T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133257410T>C , CM000671.2:g.133257410T>C GRCh38
NC_000009.11:g.136132797T>C , CM000671.1:g.136132797T>C GRCh37
NC_000009.10:g.135122618T>C NCBI36
NG_006669.1:g.20258A>G
NG_006669.2:g.22806A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.402A>G
ENST00000647353.1:n.54-6258A>G
ENST00000651471.1:n.329+632A>G
ENST00000679909.1:c.28+17752A>G ENSP00000506089.1:n.28+17752A>G
ENST00000453660.3:n.384A>G
ENST00000538324.2:c.370A>G ENSP00000483018.1:p.Lys124Glu
ENST00000611156.4:c.370A>G ENSP00000483265.1:p.Lys124Glu
NM_020469.2:c.373A>G NP_065202.2:p.Lys125Glu
NM_020469.3:c.373A>G NP_065202.2:p.Lys125Glu
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