Canonical Allele Identifier: CA5305639

Gene: ABO

Linked Data

• dbSNP Id: rs781807081
• ExAC: 9:136131023 G / A
• gnomAD v2: 9-136131023-G-A
• gnomAD v3: 9-133255636-G-A
• gnomAD v4: 9-133255636-G-A
• MyVariant Identifiers: chr9:g.136131023G>A (hg19) ; chr9:g.133255636G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255636G>A , CM000671.2:g.133255636G>A	GRCh38
NC_000009.11:g.136131023G>A , CM000671.1:g.136131023G>A	GRCh37
NC_000009.10:g.135120844G>A	NCBI36
NG_006669.1:g.22032C>T
NG_006669.2:g.24580C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1124C>T
ENST00000647353.1:n.54-4484C>T
ENST00000679909.1:c.28+19526C>T	ENSP00000506089.1:n.28+19526C>T
ENST00000453660.3:n.1106C>T
ENST00000538324.2:c.1088C>T	ENSP00000483018.1:p.Pro363Leu
ENST00000611156.4:c.*30C>T	ENSP00000483265.1:n.*30C>T
NM_020469.2:c.*30C>T	NP_065202.2:n.*30C>T
NM_020469.3:c.*30C>T	NP_065202.2:n.*30C>T