Canonical Allele Identifier: CA375686209

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131601G>T (hg19) ; chr9:g.133256214G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256214G>T , CM000671.2:g.133256214G>T	GRCh38
NC_000009.11:g.136131601G>T , CM000671.1:g.136131601G>T	GRCh37
NC_000009.10:g.135121422G>T	NCBI36
NG_006669.1:g.21454C>A
NG_006669.2:g.24002C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.546C>A
ENST00000647353.1:n.54-5062C>A
ENST00000651471.1:n.472C>A
ENST00000679909.1:c.28+18948C>A	ENSP00000506089.1:n.28+18948C>A
ENST00000453660.3:n.528C>A
ENST00000538324.2:c.514C>A	ENSP00000483018.1:p.Leu172Met
ENST00000611156.4:c.514C>A	ENSP00000483265.1:p.Leu172Met
NM_020469.2:c.517C>A	NP_065202.2:p.Leu173Met
NM_020469.3:c.517C>A	NP_065202.2:p.Leu173Met