Canonical Allele Identifier: CA467780138
Gene: ABO HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.136130735C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255348C>G , CM000671.2:g.133255348C>G GRCh38
NC_000009.11:g.136130735C>G , CM000671.1:g.136130735C>G GRCh37
NC_000009.10:g.135120556C>G NCBI36
NG_006669.1:g.22320G>C
NG_006669.2:g.24868G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.1412G>C
ENST00000647353.1:n.54-4196G>C
ENST00000679909.1:c.28+19814G>C ENSP00000506089.1:n.28+19814G>C
ENST00000453660.3:n.1394G>C
ENST00000611156.4:c.*318G>C ENSP00000483265.1:n.*318G>C
NM_020469.2:c.*318G>C NP_065202.2:n.*318G>C
NM_020469.3:c.*318G>C NP_065202.2:n.*318G>C