Canonical Allele Identifier: CA5305665

Gene: ABO

Linked Data

• dbSNP Id: rs782621375
• ExAC: 9:136131122 C / T
• gnomAD v2: 9-136131122-C-T
• gnomAD v4: 9-133255735-C-T
• MyVariant Identifiers: chr9:g.136131122C>T (hg19) ; chr9:g.133255735C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255735C>T , CM000671.2:g.133255735C>T	GRCh38
NC_000009.11:g.136131122C>T , CM000671.1:g.136131122C>T	GRCh37
NC_000009.10:g.135120943C>T	NCBI36
NG_006669.1:g.21933G>A
NG_006669.2:g.24481G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1025G>A
ENST00000647353.1:n.54-4583G>A
ENST00000679909.1:c.28+19427G>A	ENSP00000506089.1:n.28+19427G>A
ENST00000453660.3:n.1007G>A
ENST00000538324.2:c.993G>A	ENSP00000483018.1:p.Trp331Ter
ENST00000611156.4:c.993G>A	ENSP00000483265.1:p.Trp331Ter
NM_020469.2:c.996G>A	NP_065202.2:p.Trp332Ter
NM_020469.3:c.996G>A	NP_065202.2:p.Trp332Ter