Canonical Allele Identifier: CA375683474
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255715A>C , CM000671.2:g.133255715A>C GRCh38
NC_000009.11:g.136131102A>C , CM000671.1:g.136131102A>C GRCh37
NC_000009.10:g.135120923A>C NCBI36
NG_006669.1:g.21953T>G
NG_006669.2:g.24501T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.1045T>G
ENST00000647353.1:n.54-4563T>G
ENST00000679909.1:c.28+19447T>G ENSP00000506089.1:n.28+19447T>G
ENST00000453660.3:n.1027T>G
ENST00000538324.2:c.1013T>G ENSP00000483018.1:p.Leu338Arg
ENST00000611156.4:c.1013T>G ENSP00000483265.1:p.Leu338Arg
NM_020469.2:c.1016T>G NP_065202.2:p.Leu339Arg
NM_020469.3:c.1016T>G NP_065202.2:p.Leu339Arg