Canonical Allele Identifier: CA467853049
Gene: ABO HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.136131515G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256128G>C , CM000671.2:g.133256128G>C GRCh38
NC_000009.11:g.136131515G>C , CM000671.1:g.136131515G>C GRCh37
NC_000009.10:g.135121336G>C NCBI36
NG_006669.1:g.21540C>G
NG_006669.2:g.24088C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.632C>G
ENST00000647353.1:n.54-4976C>G
ENST00000651471.1:n.558C>G
ENST00000679909.1:c.28+19034C>G ENSP00000506089.1:n.28+19034C>G
ENST00000453660.3:n.614C>G
ENST00000538324.2:c.600C>G ENSP00000483018.1:p.Leu200=
ENST00000611156.4:c.600C>G ENSP00000483265.1:p.Leu200=
NM_020469.2:c.603C>G NP_065202.2:p.Leu201=
NM_020469.3:c.603C>G NP_065202.2:p.Leu201=