Canonical Allele Identifier: CA467852716
Gene: ABO HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.136131320C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255933C>G , CM000671.2:g.133255933C>G GRCh38
NC_000009.11:g.136131320C>G , CM000671.1:g.136131320C>G GRCh37
NC_000009.10:g.135121141C>G NCBI36
NG_006669.1:g.21735G>C
NG_006669.2:g.24283G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.827G>C
ENST00000647353.1:n.54-4781G>C
ENST00000679909.1:c.28+19229G>C ENSP00000506089.1:n.28+19229G>C
ENST00000453660.3:n.809G>C
ENST00000538324.2:c.795G>C ENSP00000483018.1:p.Leu265=
ENST00000611156.4:c.795G>C ENSP00000483265.1:p.Leu265=
NM_020469.2:c.798G>C NP_065202.2:p.Leu266=
NM_020469.3:c.798G>C NP_065202.2:p.Leu266=
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