Canonical Allele Identifier: CA375685542

Gene: ABO

Linked Data

• gnomAD v4: 9-133256037-G-T
• MyVariant Identifiers: chr9:g.136131424G>T (hg19) ; chr9:g.133256037G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256037G>T , CM000671.2:g.133256037G>T	GRCh38
NC_000009.11:g.136131424G>T , CM000671.1:g.136131424G>T	GRCh37
NC_000009.10:g.135121245G>T	NCBI36
NG_006669.1:g.21631C>A
NG_006669.2:g.24179C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.723C>A
ENST00000647353.1:n.54-4885C>A
ENST00000679909.1:c.28+19125C>A	ENSP00000506089.1:n.28+19125C>A
ENST00000453660.3:n.705C>A
ENST00000538324.2:c.691C>A	ENSP00000483018.1:p.Leu231Met
ENST00000611156.4:c.691C>A	ENSP00000483265.1:p.Leu231Met
NM_020469.2:c.694C>A	NP_065202.2:p.Leu232Met
NM_020469.3:c.694C>A	NP_065202.2:p.Leu232Met