Canonical Allele Identifier: CA375683470

Gene: ABO

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255713T>C , CM000671.2:g.133255713T>C	GRCh38
NC_000009.11:g.136131100T>C , CM000671.1:g.136131100T>C	GRCh37
NC_000009.10:g.135120921T>C	NCBI36
NG_006669.1:g.21955A>G
NG_006669.2:g.24503A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1047A>G
ENST00000647353.1:n.54-4561A>G
ENST00000679909.1:c.28+19449A>G	ENSP00000506089.1:n.28+19449A>G
ENST00000453660.3:n.1029A>G
ENST00000538324.2:c.1015A>G	ENSP00000483018.1:p.Arg339Gly
ENST00000611156.4:c.1015A>G	ENSP00000483265.1:p.Arg339Gly
NM_020469.2:c.1018A>G	NP_065202.2:p.Arg340Gly
NM_020469.3:c.1018A>G	NP_065202.2:p.Arg340Gly