Canonical Allele Identifier: CA375685563

Gene: ABO

Linked Data

• gnomAD v4: 9-133256042-C-G
• MyVariant Identifiers: chr9:g.136131429C>G (hg19) ; chr9:g.133256042C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256042C>G , CM000671.2:g.133256042C>G	GRCh38
NC_000009.11:g.136131429C>G , CM000671.1:g.136131429C>G	GRCh37
NC_000009.10:g.135121250C>G	NCBI36
NG_006669.1:g.21626G>C
NG_006669.2:g.24174G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.718G>C
ENST00000647353.1:n.54-4890G>C
ENST00000679909.1:c.28+19120G>C	ENSP00000506089.1:n.28+19120G>C
ENST00000453660.3:n.700G>C
ENST00000538324.2:c.686G>C	ENSP00000483018.1:p.Gly229Ala
ENST00000611156.4:c.686G>C	ENSP00000483265.1:p.Gly229Ala
NM_020469.2:c.689G>C	NP_065202.2:p.Gly230Ala
NM_020469.3:c.689G>C	NP_065202.2:p.Gly230Ala