Canonical Allele Identifier: CA375686200

Gene: ABO

Linked Data

• gnomAD v4: 9-133256210-T-A
• MyVariant Identifiers: chr9:g.136131597T>A (hg19) ; chr9:g.133256210T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256210T>A , CM000671.2:g.133256210T>A	GRCh38
NC_000009.11:g.136131597T>A , CM000671.1:g.136131597T>A	GRCh37
NC_000009.10:g.135121418T>A	NCBI36
NG_006669.1:g.21458A>T
NG_006669.2:g.24006A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.550A>T
ENST00000647353.1:n.54-5058A>T
ENST00000651471.1:n.476A>T
ENST00000679909.1:c.28+18952A>T	ENSP00000506089.1:n.28+18952A>T
ENST00000453660.3:n.532A>T
ENST00000538324.2:c.518A>T	ENSP00000483018.1:p.Glu173Val
ENST00000611156.4:c.518A>T	ENSP00000483265.1:p.Glu173Val
NM_020469.2:c.521A>T	NP_065202.2:p.Glu174Val
NM_020469.3:c.521A>T	NP_065202.2:p.Glu174Val