Canonical Allele Identifier: CA375684088
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255802A>C , CM000671.2:g.133255802A>C GRCh38
NC_000009.11:g.136131189A>C , CM000671.1:g.136131189A>C GRCh37
NC_000009.10:g.135121010A>C NCBI36
NG_006669.1:g.21866T>G
NG_006669.2:g.24414T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.958T>G
ENST00000647353.1:n.54-4650T>G
ENST00000679909.1:c.28+19360T>G ENSP00000506089.1:n.28+19360T>G
ENST00000453660.3:n.940T>G
ENST00000538324.2:c.926T>G ENSP00000483018.1:p.Leu309Arg
ENST00000611156.4:c.926T>G ENSP00000483265.1:p.Leu309Arg
NM_020469.2:c.929T>G NP_065202.2:p.Leu310Arg
NM_020469.3:c.929T>G NP_065202.2:p.Leu310Arg