Canonical Allele Identifier: CA5305653

Gene: ABO

Linked Data

• dbSNP Id: rs782794422
• ExAC: 9:136131077 G / C
• gnomAD v2: 9-136131077-G-C
• gnomAD v4: 9-133255690-G-C
• MyVariant Identifiers: chr9:g.136131077G>C (hg19) ; chr9:g.133255690G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255690G>C , CM000671.2:g.133255690G>C	GRCh38
NC_000009.11:g.136131077G>C , CM000671.1:g.136131077G>C	GRCh37
NC_000009.10:g.135120898G>C	NCBI36
NG_006669.1:g.21978C>G
NG_006669.2:g.24526C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1070C>G
ENST00000647353.1:n.54-4538C>G
ENST00000679909.1:c.28+19472C>G	ENSP00000506089.1:n.28+19472C>G
ENST00000453660.3:n.1052C>G
ENST00000538324.2:c.1038C>G	ENSP00000483018.1:p.Asn346Lys
ENST00000611156.4:c.1038C>G	ENSP00000483265.1:p.Asn346Lys
NM_020469.2:c.1041C>G	NP_065202.2:p.Asn347Lys
NM_020469.3:c.1041C>G	NP_065202.2:p.Asn347Lys