Canonical Allele Identifier: CA591308924

Gene: ABO

Linked Data

• dbSNP Id: rs1289096516
• gnomAD v2: 9-136132369-T-C
• gnomAD v3: 9-133256982-T-C
• gnomAD v4: 9-133256982-T-C
• MyVariant Identifiers: chr9:g.136132369T>C (hg19) ; chr9:g.133256982T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256982T>C , CM000671.2:g.133256982T>C	GRCh38
NC_000009.11:g.136132369T>C , CM000671.1:g.136132369T>C	GRCh37
NC_000009.10:g.135122190T>C	NCBI36
NG_006669.1:g.20686A>G
NG_006669.2:g.23234A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.403+427A>G
ENST00000647353.1:n.54-5830A>G
ENST00000651471.1:n.330-626A>G
ENST00000679909.1:c.28+18180A>G	ENSP00000506089.1:n.28+18180A>G
ENST00000453660.3:n.385+427A>G
ENST00000538324.2:c.371+427A>G	ENSP00000483018.1:n.371+427A>G
ENST00000611156.4:c.371+427A>G	ENSP00000483265.1:n.371+427A>G
NM_020469.2:c.374+427A>G	NP_065202.2:n.374+427A>G
NM_020469.3:c.374+427A>G	NP_065202.2:n.374+427A>G