Canonical Allele Identifier: CA375683088

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131057G>T (hg19) ; chr9:g.133255670G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255670G>T , CM000671.2:g.133255670G>T	GRCh38
NC_000009.11:g.136131057G>T , CM000671.1:g.136131057G>T	GRCh37
NC_000009.10:g.135120878G>T	NCBI36
NG_006669.1:g.21998C>A
NG_006669.2:g.24546C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1090C>A
ENST00000647353.1:n.54-4518C>A
ENST00000679909.1:c.28+19492C>A	ENSP00000506089.1:n.28+19492C>A
ENST00000453660.3:n.1072C>A
ENST00000538324.2:c.1054C>A	ENSP00000483018.1:p.Arg352Ser
ENST00000611156.4:c.1058C>A	ENSP00000483265.1:p.Pro353Gln
NM_020469.2:c.1061C>A	NP_065202.2:p.Pro354Gln
NM_020469.3:c.1061C>A	NP_065202.2:p.Pro354Gln