Canonical Allele Identifier: CA375686407
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256311G>T , CM000671.2:g.133256311G>T GRCh38
NC_000009.11:g.136131698G>T , CM000671.1:g.136131698G>T GRCh37
NC_000009.10:g.135121519G>T NCBI36
NG_006669.1:g.21357C>A
NG_006669.2:g.23905C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.449C>A
ENST00000647353.1:n.54-5159C>A
ENST00000651471.1:n.375C>A
ENST00000679909.1:c.28+18851C>A ENSP00000506089.1:n.28+18851C>A
ENST00000453660.3:n.431C>A
ENST00000538324.2:c.417C>A ENSP00000483018.1:p.His139Gln
ENST00000611156.4:c.417C>A ENSP00000483265.1:p.His139Gln
NM_020469.2:c.420C>A NP_065202.2:p.His140Gln
NM_020469.3:c.420C>A NP_065202.2:p.His140Gln