Canonical Allele Identifier: CA375686090

Gene: ABO

Linked Data

• dbSNP Id: rs1564304216
• gnomAD v4: 9-133256158-C-A
• MyVariant Identifiers: chr9:g.136131545C>A (hg19) ; chr9:g.133256158C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256158C>A , CM000671.2:g.133256158C>A	GRCh38
NC_000009.11:g.136131545C>A , CM000671.1:g.136131545C>A	GRCh37
NC_000009.10:g.135121366C>A	NCBI36
NG_006669.1:g.21510G>T
NG_006669.2:g.24058G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.602G>T
ENST00000647353.1:n.54-5006G>T
ENST00000651471.1:n.528G>T
ENST00000679909.1:c.28+19004G>T	ENSP00000506089.1:n.28+19004G>T
ENST00000453660.3:n.584G>T
ENST00000538324.2:c.570G>T	ENSP00000483018.1:p.Met190Ile
ENST00000611156.4:c.570G>T	ENSP00000483265.1:p.Met190Ile
NM_020469.2:c.573G>T	NP_065202.2:p.Met191Ile
NM_020469.3:c.573G>T	NP_065202.2:p.Met191Ile