Canonical Allele Identifier: CA375683644
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255745A>G , CM000671.2:g.133255745A>G GRCh38
NC_000009.11:g.136131132A>G , CM000671.1:g.136131132A>G GRCh37
NC_000009.10:g.135120953A>G NCBI36
NG_006669.1:g.21923T>C
NG_006669.2:g.24471T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.1015T>C
ENST00000647353.1:n.54-4593T>C
ENST00000679909.1:c.28+19417T>C ENSP00000506089.1:n.28+19417T>C
ENST00000453660.3:n.997T>C
ENST00000538324.2:c.983T>C ENSP00000483018.1:p.Leu328Pro
ENST00000611156.4:c.983T>C ENSP00000483265.1:p.Leu328Pro
NM_020469.2:c.986T>C NP_065202.2:p.Leu329Pro
NM_020469.3:c.986T>C NP_065202.2:p.Leu329Pro