Canonical Allele Identifier: CA375686478

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131731G>T (hg19) ; chr9:g.133256344G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256344G>T , CM000671.2:g.133256344G>T	GRCh38
NC_000009.11:g.136131731G>T , CM000671.1:g.136131731G>T	GRCh37
NC_000009.10:g.135121552G>T	NCBI36
NG_006669.1:g.21324C>A
NG_006669.2:g.23872C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.416C>A
ENST00000647353.1:n.54-5192C>A
ENST00000651471.1:n.342C>A
ENST00000679909.1:c.28+18818C>A	ENSP00000506089.1:n.28+18818C>A
ENST00000453660.3:n.398C>A
ENST00000538324.2:c.384C>A	ENSP00000483018.1:p.Phe128Leu
ENST00000611156.4:c.384C>A	ENSP00000483265.1:p.Phe128Leu
NM_020469.2:c.387C>A	NP_065202.2:p.Phe129Leu
NM_020469.3:c.387C>A	NP_065202.2:p.Phe129Leu