Canonical Allele Identifier: CA375686027

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131517G>C (hg19) ; chr9:g.133256130G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256130G>C , CM000671.2:g.133256130G>C	GRCh38
NC_000009.11:g.136131517G>C , CM000671.1:g.136131517G>C	GRCh37
NC_000009.10:g.135121338G>C	NCBI36
NG_006669.1:g.21538C>G
NG_006669.2:g.24086C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.630C>G
ENST00000647353.1:n.54-4978C>G
ENST00000651471.1:n.556C>G
ENST00000679909.1:c.28+19032C>G	ENSP00000506089.1:n.28+19032C>G
ENST00000453660.3:n.612C>G
ENST00000538324.2:c.598C>G	ENSP00000483018.1:p.Leu200Val
ENST00000611156.4:c.598C>G	ENSP00000483265.1:p.Leu200Val
NM_020469.2:c.601C>G	NP_065202.2:p.Leu201Val
NM_020469.3:c.601C>G	NP_065202.2:p.Leu201Val