Canonical Allele Identifier: CA375686273

Gene: ABO

Linked Data

• dbSNP Id: rs1834580588
• MyVariant Identifiers: chr9:g.136131639G>A (hg19) ; chr9:g.133256252G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256252G>A , CM000671.2:g.133256252G>A	GRCh38
NC_000009.11:g.136131639G>A , CM000671.1:g.136131639G>A	GRCh37
NC_000009.10:g.135121460G>A	NCBI36
NG_006669.1:g.21416C>T
NG_006669.2:g.23964C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.508C>T
ENST00000647353.1:n.54-5100C>T
ENST00000651471.1:n.434C>T
ENST00000679909.1:c.28+18910C>T	ENSP00000506089.1:n.28+18910C>T
ENST00000453660.3:n.490C>T
ENST00000538324.2:c.476C>T	ENSP00000483018.1:p.Pro159Leu
ENST00000611156.4:c.476C>T	ENSP00000483265.1:p.Pro159Leu
NM_020469.2:c.479C>T	NP_065202.2:p.Pro160Leu
NM_020469.3:c.479C>T	NP_065202.2:p.Pro160Leu