Canonical Allele Identifier: CA5305700

Gene: ABO

Linked Data

• dbSNP Id: rs781789696
• ExAC: 9:136131247 C / T
• gnomAD v2: 9-136131247-C-T
• gnomAD v3: 9-133255860-C-T
• gnomAD v4: 9-133255860-C-T
• MyVariant Identifiers: chr9:g.136131247C>T (hg19) ; chr9:g.133255860C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255860C>T , CM000671.2:g.133255860C>T	GRCh38
NC_000009.11:g.136131247C>T , CM000671.1:g.136131247C>T	GRCh37
NC_000009.10:g.135121068C>T	NCBI36
NG_006669.1:g.21808G>A
NG_006669.2:g.24356G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.900G>A
ENST00000647353.1:n.54-4708G>A
ENST00000679909.1:c.28+19302G>A	ENSP00000506089.1:n.28+19302G>A
ENST00000453660.3:n.882G>A
ENST00000538324.2:c.868G>A	ENSP00000483018.1:p.Asp290Asn
ENST00000611156.4:c.868G>A	ENSP00000483265.1:p.Asp290Asn
NM_020469.2:c.871G>A	NP_065202.2:p.Asp291Asn
NM_020469.3:c.871G>A	NP_065202.2:p.Asp291Asn