Canonical Allele Identifier: CA5305738

Gene: ABO

Linked Data

• dbSNP Id: rs782815789
• ExAC: 9:136131331 A / G
• gnomAD v2: 9-136131331-A-G
• gnomAD v3: 9-133255944-A-G
• gnomAD v4: 9-133255944-A-G
• MyVariant Identifiers: chr9:g.136131331A>G (hg19) ; chr9:g.133255944A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255944A>G , CM000671.2:g.133255944A>G	GRCh38
NC_000009.11:g.136131331A>G , CM000671.1:g.136131331A>G	GRCh37
NC_000009.10:g.135121152A>G	NCBI36
NG_006669.1:g.21724T>C
NG_006669.2:g.24272T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.816T>C
ENST00000647353.1:n.54-4792T>C
ENST00000679909.1:c.28+19218T>C	ENSP00000506089.1:n.28+19218T>C
ENST00000453660.3:n.798T>C
ENST00000538324.2:c.784T>C	ENSP00000483018.1:p.Phe262Leu
ENST00000611156.4:c.784T>C	ENSP00000483265.1:p.Phe262Leu
NM_020469.2:c.787T>C	NP_065202.2:p.Phe263Leu
NM_020469.3:c.787T>C	NP_065202.2:p.Phe263Leu