Canonical Allele Identifier: CA200765357

Gene: ABO

Linked Data

• dbSNP Id: rs868656449
• gnomAD v4: 9-133256009-C-A
• MyVariant Identifiers: chr9:g.136131396C>A (hg19) ; chr9:g.133256009C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256009C>A , CM000671.2:g.133256009C>A	GRCh38
NC_000009.11:g.136131396C>A , CM000671.1:g.136131396C>A	GRCh37
NC_000009.10:g.135121217C>A	NCBI36
NG_006669.1:g.21659G>T
NG_006669.2:g.24207G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.751G>T
ENST00000647353.1:n.54-4857G>T
ENST00000679909.1:c.28+19153G>T	ENSP00000506089.1:n.28+19153G>T
ENST00000453660.3:n.733G>T
ENST00000538324.2:c.719G>T	ENSP00000483018.1:p.Arg240Leu
ENST00000611156.4:c.719G>T	ENSP00000483265.1:p.Arg240Leu
NM_020469.2:c.722G>T	NP_065202.2:p.Arg241Leu
NM_020469.3:c.722G>T	NP_065202.2:p.Arg241Leu