Canonical Allele Identifier: CA375686487

Gene: ABO

Linked Data

• gnomAD v4: 9-133256349-C-T
• COSMIC: COSM5503556
• MyVariant Identifiers: chr9:g.136131736C>T (hg19) ; chr9:g.133256349C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256349C>T , CM000671.2:g.133256349C>T	GRCh38
NC_000009.11:g.136131736C>T , CM000671.1:g.136131736C>T	GRCh37
NC_000009.10:g.135121557C>T	NCBI36
NG_006669.1:g.21319G>A
NG_006669.2:g.23867G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.411G>A
ENST00000647353.1:n.54-5197G>A
ENST00000651471.1:n.337G>A
ENST00000679909.1:c.28+18813G>A	ENSP00000506089.1:n.28+18813G>A
ENST00000453660.3:n.393G>A
ENST00000538324.2:c.379G>A	ENSP00000483018.1:p.Ala127Thr
ENST00000611156.4:c.379G>A	ENSP00000483265.1:p.Ala127Thr
NM_020469.2:c.382G>A	NP_065202.2:p.Ala128Thr
NM_020469.3:c.382G>A	NP_065202.2:p.Ala128Thr