Canonical Allele Identifier: CA591310938

Gene: ABO

Linked Data

• dbSNP Id: rs1554760409
• gnomAD v2: 9-136149539-G-A
• gnomAD v3: 9-133274123-G-A
• gnomAD v4: 9-133274123-G-A
• MyVariant Identifiers: chr9:g.136149539G>A (hg19) ; chr9:g.133274123G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133274123G>A , CM000671.2:g.133274123G>A	GRCh38
NC_000009.11:g.136149539G>A , CM000671.1:g.136149539G>A	GRCh37
NC_000009.10:g.135139360G>A	NCBI36
NG_006669.1:g.3512C>T
NG_006669.2:g.6092C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.58+1039C>T
ENST00000647353.1:n.53+1039C>T
ENST00000651471.1:n.63+1839C>T
ENST00000679909.1:c.28+1039C>T	ENSP00000506089.1:n.28+1039C>T
ENST00000453660.3:n.40+1039C>T
ENST00000538324.2:c.28+1039C>T	ENSP00000483018.1:n.28+1039C>T
ENST00000611156.4:c.28+1039C>T	ENSP00000483265.1:n.28+1039C>T
NM_020469.2:c.28+1039C>T	NP_065202.2:n.28+1039C>T
NM_020469.3:c.28+1039C>T	NP_065202.2:n.28+1039C>T