Canonical Allele Identifier: CA5305645

Gene: ABO

Linked Data

• dbSNP Id: rs782672373
• ExAC: 9:136131056 C / T
• gnomAD v2: 9-136131056-C-T
• gnomAD v3: 9-133255669-C-T
• gnomAD v4: 9-133255669-C-T
• MyVariant Identifiers: chr9:g.136131056C>T (hg19) ; chr9:g.136131056_136131057delinsTG (hg19) ; chr9:g.133255669C>T (hg38) ; chr9:g.133255669_133255670delinsTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255669C>T , CM000671.2:g.133255669C>T	GRCh38
NC_000009.11:g.136131056C>T , CM000671.1:g.136131056C>T	GRCh37
NC_000009.10:g.135120877C>T	NCBI36
NG_006669.1:g.21999G>A
NG_006669.2:g.24547G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1091G>A
ENST00000647353.1:n.54-4517G>A
ENST00000679909.1:c.28+19493G>A	ENSP00000506089.1:n.28+19493G>A
ENST00000453660.3:n.1073G>A
ENST00000538324.2:c.1055G>A	ENSP00000483018.1:p.Arg352His
ENST00000611156.4:c.1059G>A	ENSP00000483265.1:p.Pro353=
NM_020469.2:c.1062G>A	NP_065202.2:p.Pro354=
NM_020469.3:c.1062G>A	NP_065202.2:p.Pro354=