Canonical Allele Identifier: CA375684853

Gene: ABO

Linked Data

• dbSNP Id: rs1694928200
• gnomAD v4: 9-133255893-G-A
• MyVariant Identifiers: chr9:g.136131280G>A (hg19) ; chr9:g.133255893G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255893G>A , CM000671.2:g.133255893G>A	GRCh38
NC_000009.11:g.136131280G>A , CM000671.1:g.136131280G>A	GRCh37
NC_000009.10:g.135121101G>A	NCBI36
NG_006669.1:g.21775C>T
NG_006669.2:g.24323C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.867C>T
ENST00000647353.1:n.54-4741C>T
ENST00000679909.1:c.28+19269C>T	ENSP00000506089.1:n.28+19269C>T
ENST00000453660.3:n.849C>T
ENST00000538324.2:c.835C>T	ENSP00000483018.1:p.Leu279Phe
ENST00000611156.4:c.835C>T	ENSP00000483265.1:p.Leu279Phe
NM_020469.2:c.838C>T	NP_065202.2:p.Leu280Phe
NM_020469.3:c.838C>T	NP_065202.2:p.Leu280Phe