Canonical Allele Identifier: CA375686022

Gene: ABO

Linked Data

• gnomAD v4: 9-133256129-A-G
• MyVariant Identifiers: chr9:g.136131516A>G (hg19) ; chr9:g.133256129A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256129A>G , CM000671.2:g.133256129A>G	GRCh38
NC_000009.11:g.136131516A>G , CM000671.1:g.136131516A>G	GRCh37
NC_000009.10:g.135121337A>G	NCBI36
NG_006669.1:g.21539T>C
NG_006669.2:g.24087T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.631T>C
ENST00000647353.1:n.54-4977T>C
ENST00000651471.1:n.557T>C
ENST00000679909.1:c.28+19033T>C	ENSP00000506089.1:n.28+19033T>C
ENST00000453660.3:n.613T>C
ENST00000538324.2:c.599T>C	ENSP00000483018.1:p.Leu200Pro
ENST00000611156.4:c.599T>C	ENSP00000483265.1:p.Leu200Pro
NM_020469.2:c.602T>C	NP_065202.2:p.Leu201Pro
NM_020469.3:c.602T>C	NP_065202.2:p.Leu201Pro