Canonical Allele Identifier: CA591310943

Gene: ABO

Linked Data

• dbSNP Id: rs1554760415
• gnomAD v2: 9-136149560-G-A
• gnomAD v3: 9-133274144-G-A
• gnomAD v4: 9-133274144-G-A
• MyVariant Identifiers: chr9:g.136149560G>A (hg19) ; chr9:g.133274144G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133274144G>A , CM000671.2:g.133274144G>A	GRCh38
NC_000009.11:g.136149560G>A , CM000671.1:g.136149560G>A	GRCh37
NC_000009.10:g.135139381G>A	NCBI36
NG_006669.1:g.3491C>T
NG_006669.2:g.6071C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.58+1018C>T
ENST00000647353.1:n.53+1018C>T
ENST00000651471.1:n.63+1818C>T
ENST00000679909.1:c.28+1018C>T	ENSP00000506089.1:n.28+1018C>T
ENST00000453660.3:n.40+1018C>T
ENST00000538324.2:c.28+1018C>T	ENSP00000483018.1:n.28+1018C>T
ENST00000611156.4:c.28+1018C>T	ENSP00000483265.1:n.28+1018C>T
NM_020469.2:c.28+1018C>T	NP_065202.2:n.28+1018C>T
NM_020469.3:c.28+1018C>T	NP_065202.2:n.28+1018C>T