Canonical Allele Identifier: CA375686464

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131725C>G (hg19) ; chr9:g.133256338C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256338C>G , CM000671.2:g.133256338C>G	GRCh38
NC_000009.11:g.136131725C>G , CM000671.1:g.136131725C>G	GRCh37
NC_000009.10:g.135121546C>G	NCBI36
NG_006669.1:g.21330G>C
NG_006669.2:g.23878G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.422G>C
ENST00000647353.1:n.54-5186G>C
ENST00000651471.1:n.348G>C
ENST00000679909.1:c.28+18824G>C	ENSP00000506089.1:n.28+18824G>C
ENST00000453660.3:n.404G>C
ENST00000538324.2:c.390G>C	ENSP00000483018.1:p.Lys130Asn
ENST00000611156.4:c.390G>C	ENSP00000483265.1:p.Lys130Asn
NM_020469.2:c.393G>C	NP_065202.2:p.Lys131Asn
NM_020469.3:c.393G>C	NP_065202.2:p.Lys131Asn