Canonical Allele Identifier: CA467780131

Gene: ABO

Linked Data

• dbSNP Id: rs1412963839
• gnomAD v2: 9-136130733-C-G
• MyVariant Identifiers: chr9:g.136130733C>G (hg19) ; chr9:g.133255346C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255346C>G , CM000671.2:g.133255346C>G	GRCh38
NC_000009.11:g.136130733C>G , CM000671.1:g.136130733C>G	GRCh37
NC_000009.10:g.135120554C>G	NCBI36
NG_006669.1:g.22322G>C
NG_006669.2:g.24870G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1414G>C
ENST00000647353.1:n.54-4194G>C
ENST00000679909.1:c.28+19816G>C	ENSP00000506089.1:n.28+19816G>C
ENST00000453660.3:n.1396G>C
ENST00000611156.4:c.*320G>C	ENSP00000483265.1:n.*320G>C
NM_020469.2:c.*320G>C	NP_065202.2:n.*320G>C
NM_020469.3:c.*320G>C	NP_065202.2:n.*320G>C