Canonical Allele Identifier: CA1129716415

Gene: ABO

Linked Data

• dbSNP Id: rs781984049
• gnomAD v3: 9-133258414-G-A
• gnomAD v4: 9-133258414-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133258414G>A , CM000671.2:g.133258414G>A	GRCh38
NC_000009.11:g.136133805G>A , CM000671.1:g.136133805G>A	GRCh37
NC_000009.10:g.135123626G>A	NCBI36
NG_006669.1:g.19249C>T
NG_006669.2:g.21801C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.234-282C>T
ENST00000647353.1:n.54-7262C>T
ENST00000651471.1:n.239-282C>T
ENST00000679909.1:c.28+16748C>T	ENSP00000506089.1:n.28+16748C>T
ENST00000453660.3:n.216-282C>T
ENST00000538324.2:c.204-282C>T	ENSP00000483018.1:n.204-282C>T
ENST00000611156.4:c.204-282C>T	ENSP00000483265.1:n.204-282C>T
NM_020469.2:c.204-282C>T	NP_065202.2:n.204-282C>T
NM_020469.3:c.204-282C>T	NP_065202.2:n.204-282C>T