Canonical Allele Identifier: CA5305812

Gene: ABO

Linked Data

• ClinVar Variation Id: 2659692
• ClinVar RCV Id: RCV003425852
• dbSNP Id: rs55687199
• ExAC: 9:136131589 C / T
• gnomAD v2: 9-136131589-C-T
• gnomAD v3: 9-133256202-C-T
• gnomAD v4: 9-133256202-C-T
• MyVariant Identifiers: chr9:g.136131589C>T (hg19) ; chr9:g.133256202C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256202C>T , CM000671.2:g.133256202C>T	GRCh38
NC_000009.11:g.136131589C>T , CM000671.1:g.136131589C>T	GRCh37
NC_000009.10:g.135121410C>T	NCBI36
NG_006669.1:g.21466G>A
NG_006669.2:g.24014G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.558G>A
ENST00000647353.1:n.54-5050G>A
ENST00000651471.1:n.484G>A
ENST00000679909.1:c.28+18960G>A	ENSP00000506089.1:n.28+18960G>A
ENST00000453660.3:n.540G>A
ENST00000538324.2:c.526G>A	ENSP00000483018.1:p.Ala176Thr
ENST00000611156.4:c.526G>A	ENSP00000483265.1:p.Ala176Thr
NM_020469.2:c.529G>A	NP_065202.2:p.Ala177Thr
NM_020469.3:c.529G>A	NP_065202.2:p.Ala177Thr