Canonical Allele Identifier: CA375684143

Gene: ABO

Linked Data

• dbSNP Id: rs1400841620
• gnomAD v2: 9-136131194-C-G
• gnomAD v4: 9-133255807-C-G
• MyVariant Identifiers: chr9:g.136131194C>G (hg19) ; chr9:g.133255807C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255807C>G , CM000671.2:g.133255807C>G	GRCh38
NC_000009.11:g.136131194C>G , CM000671.1:g.136131194C>G	GRCh37
NC_000009.10:g.135121015C>G	NCBI36
NG_006669.1:g.21861G>C
NG_006669.2:g.24409G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.953G>C
ENST00000647353.1:n.54-4655G>C
ENST00000679909.1:c.28+19355G>C	ENSP00000506089.1:n.28+19355G>C
ENST00000453660.3:n.935G>C
ENST00000538324.2:c.921G>C	ENSP00000483018.1:p.Lys307Asn
ENST00000611156.4:c.921G>C	ENSP00000483265.1:p.Lys307Asn
NM_020469.2:c.924G>C	NP_065202.2:p.Lys308Asn
NM_020469.3:c.924G>C	NP_065202.2:p.Lys308Asn