Canonical Allele Identifier: CA375682189

Gene: ABO

Linked Data

• gnomAD v4: 9-133255609-C-A
• MyVariant Identifiers: chr9:g.136130996C>A (hg19) ; chr9:g.133255609C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255609C>A , CM000671.2:g.133255609C>A	GRCh38
NC_000009.11:g.136130996C>A , CM000671.1:g.136130996C>A	GRCh37
NC_000009.10:g.135120817C>A	NCBI36
NG_006669.1:g.22059G>T
NG_006669.2:g.24607G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.1151G>T
ENST00000647353.1:n.54-4457G>T
ENST00000679909.1:c.28+19553G>T	ENSP00000506089.1:n.28+19553G>T
ENST00000453660.3:n.1133G>T
ENST00000538324.2:c.1115G>T	ENSP00000483018.1:p.Trp372Leu
ENST00000611156.4:c.*57G>T	ENSP00000483265.1:n.*57G>T
NM_020469.2:c.*57G>T	NP_065202.2:n.*57G>T
NM_020469.3:c.*57G>T	NP_065202.2:n.*57G>T