Canonical Allele Identifier: CA200764791

Gene: ABO

Linked Data

• dbSNP Id: rs941419575
• gnomAD v2: 9-136130693-G-A
• gnomAD v3: 9-133255306-G-A
• gnomAD v4: 9-133255306-G-A
• MyVariant Identifiers: chr9:g.136130693G>A (hg19) ; chr9:g.133255306G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255306G>A , CM000671.2:g.133255306G>A	GRCh38
NC_000009.11:g.136130693G>A , CM000671.1:g.136130693G>A	GRCh37
NC_000009.10:g.135120514G>A	NCBI36
NG_006669.1:g.22362C>T
NG_006669.2:g.24910C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1454C>T
ENST00000647353.1:n.54-4154C>T
ENST00000679909.1:c.28+19856C>T	ENSP00000506089.1:n.28+19856C>T
ENST00000453660.3:n.1436C>T
ENST00000611156.4:c.*360C>T	ENSP00000483265.1:n.*360C>T
NM_020469.2:c.*360C>T	NP_065202.2:n.*360C>T
NM_020469.3:c.*360C>T	NP_065202.2:n.*360C>T