Canonical Allele Identifier: CA375685396

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131400T>A (hg19) ; chr9:g.133256013T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256013T>A , CM000671.2:g.133256013T>A	GRCh38
NC_000009.11:g.136131400T>A , CM000671.1:g.136131400T>A	GRCh37
NC_000009.10:g.135121221T>A	NCBI36
NG_006669.1:g.21655A>T
NG_006669.2:g.24203A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.747A>T
ENST00000647353.1:n.54-4861A>T
ENST00000679909.1:c.28+19149A>T	ENSP00000506089.1:n.28+19149A>T
ENST00000453660.3:n.729A>T
ENST00000538324.2:c.715A>T	ENSP00000483018.1:p.Ser239Cys
ENST00000611156.4:c.715A>T	ENSP00000483265.1:p.Ser239Cys
NM_020469.2:c.718A>T	NP_065202.2:p.Ser240Cys
NM_020469.3:c.718A>T	NP_065202.2:p.Ser240Cys