Canonical Allele Identifier: CA5305764

Gene: ABO

Linked Data

• dbSNP Id: rs781796577
• ExAC: 9:136131419 G / T
• gnomAD v2: 9-136131419-G-T
• gnomAD v3: 9-133256032-G-T
• gnomAD v4: 9-133256032-G-T
• MyVariant Identifiers: chr9:g.136131419G>T (hg19) ; chr9:g.133256032G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256032G>T , CM000671.2:g.133256032G>T	GRCh38
NC_000009.11:g.136131419G>T , CM000671.1:g.136131419G>T	GRCh37
NC_000009.10:g.135121240G>T	NCBI36
NG_006669.1:g.21636C>A
NG_006669.2:g.24184C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.728C>A
ENST00000647353.1:n.54-4880C>A
ENST00000679909.1:c.28+19130C>A	ENSP00000506089.1:n.28+19130C>A
ENST00000453660.3:n.710C>A
ENST00000538324.2:c.696C>A	ENSP00000483018.1:p.His232Gln
ENST00000611156.4:c.696C>A	ENSP00000483265.1:p.His232Gln
NM_020469.2:c.699C>A	NP_065202.2:p.His233Gln
NM_020469.3:c.699C>A	NP_065202.2:p.His233Gln