Canonical Allele Identifier: CA1129715758

Gene: ABO

Linked Data

• dbSNP Id: rs1834606110
• gnomAD v3: 9-133256978-T-C
• gnomAD v4: 9-133256978-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256978T>C , CM000671.2:g.133256978T>C	GRCh38
NC_000009.11:g.136132365T>C , CM000671.1:g.136132365T>C	GRCh37
NC_000009.10:g.135122186T>C	NCBI36
NG_006669.1:g.20690A>G
NG_006669.2:g.23238A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.403+431A>G
ENST00000647353.1:n.54-5826A>G
ENST00000651471.1:n.330-622A>G
ENST00000679909.1:c.28+18184A>G	ENSP00000506089.1:n.28+18184A>G
ENST00000453660.3:n.385+431A>G
ENST00000538324.2:c.371+431A>G	ENSP00000483018.1:n.371+431A>G
ENST00000611156.4:c.371+431A>G	ENSP00000483265.1:n.371+431A>G
NM_020469.2:c.374+431A>G	NP_065202.2:n.374+431A>G
NM_020469.3:c.374+431A>G	NP_065202.2:n.374+431A>G