Canonical Allele Identifier: CA200765396

Gene: ABO

Linked Data

• dbSNP Id: rs796755925
• gnomAD v4: 9-133256036-A-T
• MyVariant Identifiers: chr9:g.136131423A>T (hg19) ; chr9:g.133256036A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256036A>T , CM000671.2:g.133256036A>T	GRCh38
NC_000009.11:g.136131423A>T , CM000671.1:g.136131423A>T	GRCh37
NC_000009.10:g.135121244A>T	NCBI36
NG_006669.1:g.21632T>A
NG_006669.2:g.24180T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.724T>A
ENST00000647353.1:n.54-4884T>A
ENST00000679909.1:c.28+19126T>A	ENSP00000506089.1:n.28+19126T>A
ENST00000453660.3:n.706T>A
ENST00000538324.2:c.692T>A	ENSP00000483018.1:p.Leu231Gln
ENST00000611156.4:c.692T>A	ENSP00000483265.1:p.Leu231Gln
NM_020469.2:c.695T>A	NP_065202.2:p.Leu232Gln
NM_020469.3:c.695T>A	NP_065202.2:p.Leu232Gln