Canonical Allele Identifier: CA5305846

Gene: ABO

Linked Data

• dbSNP Id: rs782158591
• ExAC: 9:136131701 C / T
• gnomAD v2: 9-136131701-C-T
• gnomAD v4: 9-133256314-C-T
• MyVariant Identifiers: chr9:g.136131701C>T (hg19) ; chr9:g.133256314C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256314C>T , CM000671.2:g.133256314C>T	GRCh38
NC_000009.11:g.136131701C>T , CM000671.1:g.136131701C>T	GRCh37
NC_000009.10:g.135121522C>T	NCBI36
NG_006669.1:g.21354G>A
NG_006669.2:g.23902G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.446G>A
ENST00000647353.1:n.54-5162G>A
ENST00000651471.1:n.372G>A
ENST00000679909.1:c.28+18848G>A	ENSP00000506089.1:n.28+18848G>A
ENST00000453660.3:n.428G>A
ENST00000538324.2:c.414G>A	ENSP00000483018.1:p.Lys138=
ENST00000611156.4:c.414G>A	ENSP00000483265.1:p.Lys138=
NM_020469.2:c.417G>A	NP_065202.2:p.Lys139=
NM_020469.3:c.417G>A	NP_065202.2:p.Lys139=