Canonical Allele Identifier: CA375685607
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256049G>T , CM000671.2:g.133256049G>T GRCh38
NC_000009.11:g.136131436G>T , CM000671.1:g.136131436G>T GRCh37
NC_000009.10:g.135121257G>T NCBI36
NG_006669.1:g.21619C>A
NG_006669.2:g.24167C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.711C>A
ENST00000647353.1:n.54-4897C>A
ENST00000679909.1:c.28+19113C>A ENSP00000506089.1:n.28+19113C>A
ENST00000453660.3:n.693C>A
ENST00000538324.2:c.679C>A ENSP00000483018.1:p.Leu227Met
ENST00000611156.4:c.679C>A ENSP00000483265.1:p.Leu227Met
NM_020469.2:c.682C>A NP_065202.2:p.Leu228Met
NM_020469.3:c.682C>A NP_065202.2:p.Leu228Met