Canonical Allele Identifier: CA375686122

Gene: ABO

Linked Data

• dbSNP Id: rs866584466
• gnomAD v2: 9-136131559-G-T
• gnomAD v4: 9-133256172-G-T
• COSMIC: COSM5509449
• MyVariant Identifiers: chr9:g.136131559G>T (hg19) ; chr9:g.133256172G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256172G>T , CM000671.2:g.133256172G>T	GRCh38
NC_000009.11:g.136131559G>T , CM000671.1:g.136131559G>T	GRCh37
NC_000009.10:g.135121380G>T	NCBI36
NG_006669.1:g.21496C>A
NG_006669.2:g.24044C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.588C>A
ENST00000647353.1:n.54-5020C>A
ENST00000651471.1:n.514C>A
ENST00000679909.1:c.28+18990C>A	ENSP00000506089.1:n.28+18990C>A
ENST00000453660.3:n.570C>A
ENST00000538324.2:c.556C>A	ENSP00000483018.1:p.Arg186Ser
ENST00000611156.4:c.556C>A	ENSP00000483265.1:p.Arg186Ser
NM_020469.2:c.559C>A	NP_065202.2:p.Arg187Ser
NM_020469.3:c.559C>A	NP_065202.2:p.Arg187Ser