Canonical Allele Identifier: CA5305953

Gene: ABO

Linked Data

• dbSNP Id: rs374634779
• ExAC: 9:136133480 T / G
• gnomAD v2: 9-136133480-T-G
• gnomAD v3: 9-133258090-T-G
• gnomAD v4: 9-133258090-T-G
• MyVariant Identifiers: chr9:g.136133480T>G (hg19) ; chr9:g.133258090T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133258090T>G , CM000671.2:g.133258090T>G	GRCh38
NC_000009.11:g.136133480T>G , CM000671.1:g.136133480T>G	GRCh37
NC_000009.10:g.135123301T>G	NCBI36
NG_006669.1:g.19574A>C
NG_006669.2:g.22125A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.269+7A>C
ENST00000647353.1:n.54-6938A>C
ENST00000651471.1:n.281A>C
ENST00000679909.1:c.28+17072A>C	ENSP00000506089.1:n.28+17072A>C
ENST00000453660.3:n.251+7A>C
ENST00000538324.2:c.239+7A>C	ENSP00000483018.1:n.239+7A>C
ENST00000611156.4:c.239+7A>C	ENSP00000483265.1:n.239+7A>C
NM_020469.2:c.239+7A>C	NP_065202.2:n.239+7A>C
NM_020469.3:c.239+7A>C	NP_065202.2:n.239+7A>C