Canonical Allele Identifier: CA375686291

Gene: ABO

Linked Data

• gnomAD v4: 9-133256261-G-A
• MyVariant Identifiers: chr9:g.136131648G>A (hg19) ; chr9:g.133256261G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256261G>A , CM000671.2:g.133256261G>A	GRCh38
NC_000009.11:g.136131648G>A , CM000671.1:g.136131648G>A	GRCh37
NC_000009.10:g.135121469G>A	NCBI36
NG_006669.1:g.21407C>T
NG_006669.2:g.23955C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.499C>T
ENST00000647353.1:n.54-5109C>T
ENST00000651471.1:n.425C>T
ENST00000679909.1:c.28+18901C>T	ENSP00000506089.1:n.28+18901C>T
ENST00000453660.3:n.481C>T
ENST00000538324.2:c.467C>T	ENSP00000483018.1:p.Ala156Val
ENST00000611156.4:c.467C>T	ENSP00000483265.1:p.Ala156Val
NM_020469.2:c.470C>T	NP_065202.2:p.Ala157Val
NM_020469.3:c.470C>T	NP_065202.2:p.Ala157Val