Canonical Allele Identifier: CA375682206

Gene: ABO

Linked Data

• dbSNP Id: rs1351966190
• gnomAD v3: 9-133255618-G-C
• gnomAD v4: 9-133255618-G-C
• MyVariant Identifiers: chr9:g.136131005G>C (hg19) ; chr9:g.133255618G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255618G>C , CM000671.2:g.133255618G>C	GRCh38
NC_000009.11:g.136131005G>C , CM000671.1:g.136131005G>C	GRCh37
NC_000009.10:g.135120826G>C	NCBI36
NG_006669.1:g.22050C>G
NG_006669.2:g.24598C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.1142C>G
ENST00000647353.1:n.54-4466C>G
ENST00000679909.1:c.28+19544C>G	ENSP00000506089.1:n.28+19544C>G
ENST00000453660.3:n.1124C>G
ENST00000538324.2:c.1106C>G	ENSP00000483018.1:p.Ser369Cys
ENST00000611156.4:c.*48C>G	ENSP00000483265.1:n.*48C>G
NM_020469.2:c.*48C>G	NP_065202.2:n.*48C>G
NM_020469.3:c.*48C>G	NP_065202.2:n.*48C>G