Canonical Allele Identifier: CA375682208

Gene: ABO

Linked Data

• dbSNP Id: rs1351966190
• gnomAD v2: 9-136131005-G-A
• gnomAD v4: 9-133255618-G-A
• MyVariant Identifiers: chr9:g.136131005G>A (hg19) ; chr9:g.133255618G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.1142C>T
ENST00000647353.1:n.54-4466C>T
ENST00000679909.1:c.28+19544C>T	ENSP00000506089.1:n.28+19544C>T
ENST00000453660.3:n.1124C>T
ENST00000538324.2:c.1106C>T	ENSP00000483018.1:p.Ser369Phe
ENST00000611156.4:c.*48C>T	ENSP00000483265.1:n.*48C>T
NM_020469.2:c.*48C>T	NP_065202.2:n.*48C>T
NM_020469.3:c.*48C>T	NP_065202.2:n.*48C>T