Canonical Allele Identifier: CA467783539
Gene: ABO HGNC NCBI

Linked Data

dbSNP Id: rs1447593088

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133257431A>G , CM000671.2:g.133257431A>G GRCh38
NC_000009.11:g.136132818A>G , CM000671.1:g.136132818A>G GRCh37
NC_000009.10:g.135122639A>G NCBI36
NG_006669.1:g.20237T>C
NG_006669.2:g.22785T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.381T>C
ENST00000647353.1:n.54-6279T>C
ENST00000651471.1:n.329+611T>C
ENST00000679909.1:c.28+17731T>C ENSP00000506089.1:n.28+17731T>C
ENST00000453660.3:n.363T>C
ENST00000538324.2:c.349T>C ENSP00000483018.1:p.Leu117=
ENST00000611156.4:c.349T>C ENSP00000483265.1:p.Leu117=
NM_020469.2:c.352T>C NP_065202.2:p.Leu118=
NM_020469.3:c.352T>C NP_065202.2:p.Leu118=