Canonical Allele Identifier: CA375686723

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136132889A>C (hg19) ; chr9:g.133257502A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257502A>C , CM000671.2:g.133257502A>C	GRCh38
NC_000009.11:g.136132889A>C , CM000671.1:g.136132889A>C	GRCh37
NC_000009.10:g.135122710A>C	NCBI36
NG_006669.1:g.20166T>G
NG_006669.2:g.22714T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.310T>G
ENST00000647353.1:n.54-6350T>G
ENST00000651471.1:n.329+540T>G
ENST00000679909.1:c.28+17660T>G	ENSP00000506089.1:n.28+17660T>G
ENST00000453660.3:n.292T>G
ENST00000538324.2:c.278T>G	ENSP00000483018.1:p.Ile93Ser
ENST00000611156.4:c.278T>G	ENSP00000483265.1:p.Ile93Ser
NM_020469.2:c.281T>G	NP_065202.2:p.Ile94Ser
NM_020469.3:c.281T>G	NP_065202.2:p.Ile94Ser