Canonical Allele Identifier: CA5305755

Gene: ABO

Linked Data

• dbSNP Id: rs782188206
• ExAC: 9:136131394 C / T
• gnomAD v2: 9-136131394-C-T
• gnomAD v3: 9-133256007-C-T
• gnomAD v4: 9-133256007-C-T
• MyVariant Identifiers: chr9:g.136131394C>T (hg19) ; chr9:g.133256007C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256007C>T , CM000671.2:g.133256007C>T	GRCh38
NC_000009.11:g.136131394C>T , CM000671.1:g.136131394C>T	GRCh37
NC_000009.10:g.135121215C>T	NCBI36
NG_006669.1:g.21661G>A
NG_006669.2:g.24209G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.753G>A
ENST00000647353.1:n.54-4855G>A
ENST00000679909.1:c.28+19155G>A	ENSP00000506089.1:n.28+19155G>A
ENST00000453660.3:n.735G>A
ENST00000538324.2:c.721G>A	ENSP00000483018.1:p.Glu241Lys
ENST00000611156.4:c.721G>A	ENSP00000483265.1:p.Glu241Lys
NM_020469.2:c.724G>A	NP_065202.2:p.Glu242Lys
NM_020469.3:c.724G>A	NP_065202.2:p.Glu242Lys