Canonical Allele Identifier: CA200766116

Gene: ABO

Linked Data

• dbSNP Id: rs77805226
• gnomAD v2: 9-136132848-G-A
• gnomAD v3: 9-133257461-G-A
• gnomAD v4: 9-133257461-G-A
• MyVariant Identifiers: chr9:g.136132848G>A (hg19) ; chr9:g.133257461G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257461G>A , CM000671.2:g.133257461G>A	GRCh38
NC_000009.11:g.136132848G>A , CM000671.1:g.136132848G>A	GRCh37
NC_000009.10:g.135122669G>A	NCBI36
NG_006669.1:g.20207C>T
NG_006669.2:g.22755C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.351C>T
ENST00000647353.1:n.54-6309C>T
ENST00000651471.1:n.329+581C>T
ENST00000679909.1:c.28+17701C>T	ENSP00000506089.1:n.28+17701C>T
ENST00000453660.3:n.333C>T
ENST00000538324.2:c.319C>T	ENSP00000483018.1:p.Gln107Ter
ENST00000611156.4:c.319C>T	ENSP00000483265.1:p.Gln107Ter
NM_020469.2:c.322C>T	NP_065202.2:p.Gln108Ter
NM_020469.3:c.322C>T	NP_065202.2:p.Gln108Ter