Canonical Allele Identifier: CA375685953

Gene: ABO

Linked Data

• dbSNP Id: rs1447042613
• gnomAD v2: 9-136131505-C-A
• MyVariant Identifiers: chr9:g.136131505C>A (hg19) ; chr9:g.133256118C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256118C>A , CM000671.2:g.133256118C>A	GRCh38
NC_000009.11:g.136131505C>A , CM000671.1:g.136131505C>A	GRCh37
NC_000009.10:g.135121326C>A	NCBI36
NG_006669.1:g.21550G>T
NG_006669.2:g.24098G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.642G>T
ENST00000647353.1:n.54-4966G>T
ENST00000651471.1:n.568G>T
ENST00000679909.1:c.28+19044G>T	ENSP00000506089.1:n.28+19044G>T
ENST00000453660.3:n.624G>T
ENST00000538324.2:c.610G>T	ENSP00000483018.1:p.Asp204Tyr
ENST00000611156.4:c.610G>T	ENSP00000483265.1:p.Asp204Tyr
NM_020469.2:c.613G>T	NP_065202.2:p.Asp205Tyr
NM_020469.3:c.613G>T	NP_065202.2:p.Asp205Tyr