Canonical Allele Identifier: CA375686857

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136133508T>A (hg19) ; chr9:g.133258118T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133258118T>A , CM000671.2:g.133258118T>A	GRCh38
NC_000009.11:g.136133508T>A , CM000671.1:g.136133508T>A	GRCh37
NC_000009.10:g.135123329T>A	NCBI36
NG_006669.1:g.19546A>T
NG_006669.2:g.22097A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.248A>T
ENST00000647353.1:n.54-6966A>T
ENST00000651471.1:n.253A>T
ENST00000679909.1:c.28+17044A>T	ENSP00000506089.1:n.28+17044A>T
ENST00000453660.3:n.230A>T
ENST00000538324.2:c.218A>T	ENSP00000483018.1:p.Gln73Leu
ENST00000611156.4:c.218A>T	ENSP00000483265.1:p.Gln73Leu
NM_020469.2:c.218A>T	NP_065202.2:p.Gln73Leu
NM_020469.3:c.218A>T	NP_065202.2:p.Gln73Leu