Canonical Allele Identifier: CA5305750

Gene: ABO

Linked Data

• dbSNP Id: rs782490105
• ExAC: 9:136131379 C / T
• gnomAD v2: 9-136131379-C-T
• gnomAD v3: 9-133255992-C-T
• gnomAD v4: 9-133255992-C-T
• MyVariant Identifiers: chr9:g.136131379C>T (hg19) ; chr9:g.133255992C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255992C>T , CM000671.2:g.133255992C>T	GRCh38
NC_000009.11:g.136131379C>T , CM000671.1:g.136131379C>T	GRCh37
NC_000009.10:g.135121200C>T	NCBI36
NG_006669.1:g.21676G>A
NG_006669.2:g.24224G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.768G>A
ENST00000647353.1:n.54-4840G>A
ENST00000679909.1:c.28+19170G>A	ENSP00000506089.1:n.28+19170G>A
ENST00000453660.3:n.750G>A
ENST00000538324.2:c.736G>A	ENSP00000483018.1:p.Glu246Lys
ENST00000611156.4:c.736G>A	ENSP00000483265.1:p.Glu246Lys
NM_020469.2:c.739G>A	NP_065202.2:p.Glu247Lys
NM_020469.3:c.739G>A	NP_065202.2:p.Glu247Lys