Canonical Allele Identifier: CA375685636

Gene: ABO

Linked Data

• gnomAD v4: 9-133256055-T-C
• MyVariant Identifiers: chr9:g.136131442T>C (hg19) ; chr9:g.133256055T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256055T>C , CM000671.2:g.133256055T>C	GRCh38
NC_000009.11:g.136131442T>C , CM000671.1:g.136131442T>C	GRCh37
NC_000009.10:g.135121263T>C	NCBI36
NG_006669.1:g.21613A>G
NG_006669.2:g.24161A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.705A>G
ENST00000647353.1:n.54-4903A>G
ENST00000679909.1:c.28+19107A>G	ENSP00000506089.1:n.28+19107A>G
ENST00000453660.3:n.687A>G
ENST00000538324.2:c.673A>G	ENSP00000483018.1:p.Thr225Ala
ENST00000611156.4:c.673A>G	ENSP00000483265.1:p.Thr225Ala
NM_020469.2:c.676A>G	NP_065202.2:p.Thr226Ala
NM_020469.3:c.676A>G	NP_065202.2:p.Thr226Ala