Canonical Allele Identifier: CA200766486

Gene: ABO

Linked Data

• dbSNP Id: rs147013322
• gnomAD v2: 9-136133705-G-C
• gnomAD v3: 9-133258314-G-C
• gnomAD v4: 9-133258314-G-C
• MyVariant Identifiers: chr9:g.136133705G>C (hg19) ; chr9:g.133258314G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133258314G>C , CM000671.2:g.133258314G>C	GRCh38
NC_000009.11:g.136133705G>C , CM000671.1:g.136133705G>C	GRCh37
NC_000009.10:g.135123526G>C	NCBI36
NG_006669.1:g.19349C>G
NG_006669.2:g.21901C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.234-182C>G
ENST00000647353.1:n.54-7162C>G
ENST00000651471.1:n.239-182C>G
ENST00000679909.1:c.28+16848C>G	ENSP00000506089.1:n.28+16848C>G
ENST00000453660.3:n.216-182C>G
ENST00000538324.2:c.204-182C>G	ENSP00000483018.1:n.204-182C>G
ENST00000611156.4:c.204-182C>G	ENSP00000483265.1:n.204-182C>G
NM_020469.2:c.204-182C>G	NP_065202.2:n.204-182C>G
NM_020469.3:c.204-182C>G	NP_065202.2:n.204-182C>G