Canonical Allele Identifier: CA375686384

Gene: ABO

Linked Data

• gnomAD v4: 9-133256303-A-G
• MyVariant Identifiers: chr9:g.136131690A>G (hg19) ; chr9:g.133256303A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256303A>G , CM000671.2:g.133256303A>G	GRCh38
NC_000009.11:g.136131690A>G , CM000671.1:g.136131690A>G	GRCh37
NC_000009.10:g.135121511A>G	NCBI36
NG_006669.1:g.21365T>C
NG_006669.2:g.23913T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.457T>C
ENST00000647353.1:n.54-5151T>C
ENST00000651471.1:n.383T>C
ENST00000679909.1:c.28+18859T>C	ENSP00000506089.1:n.28+18859T>C
ENST00000453660.3:n.439T>C
ENST00000538324.2:c.425T>C	ENSP00000483018.1:p.Val142Ala
ENST00000611156.4:c.425T>C	ENSP00000483265.1:p.Val142Ala
NM_020469.2:c.428T>C	NP_065202.2:p.Val143Ala
NM_020469.3:c.428T>C	NP_065202.2:p.Val143Ala