Canonical Allele Identifier: CA5305874

Gene: ABO

Linked Data

• dbSNP Id: rs953709520
• ExAC: 9:136131782 C / T
• gnomAD v2: 9-136131782-C-T
• gnomAD v3: 9-133256395-C-T
• gnomAD v4: 9-133256395-C-T
• MyVariant Identifiers: chr9:g.136131782C>T (hg19) ; chr9:g.136131782_136131784delinsTCG (hg19) ; chr9:g.133256395C>T (hg38) ; chr9:g.133256395_133256397delinsTCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256395C>T , CM000671.2:g.133256395C>T	GRCh38
NC_000009.11:g.136131782C>T , CM000671.1:g.136131782C>T	GRCh37
NC_000009.10:g.135121603C>T	NCBI36
NG_006669.1:g.21273G>A
NG_006669.2:g.23821G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.404-39G>A
ENST00000647353.1:n.54-5243G>A
ENST00000651471.1:n.330-39G>A
ENST00000679909.1:c.28+18767G>A	ENSP00000506089.1:n.28+18767G>A
ENST00000453660.3:n.386-39G>A
ENST00000538324.2:c.372-39G>A	ENSP00000483018.1:n.372-39G>A
ENST00000611156.4:c.372-39G>A	ENSP00000483265.1:n.372-39G>A
NM_020469.2:c.375-39G>A	NP_065202.2:n.375-39G>A
NM_020469.3:c.375-39G>A	NP_065202.2:n.375-39G>A