Canonical Allele Identifier: CA375686206

Gene: ABO

Linked Data

• gnomAD v4: 9-133256213-A-G
• MyVariant Identifiers: chr9:g.136131600A>G (hg19) ; chr9:g.133256213A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256213A>G , CM000671.2:g.133256213A>G	GRCh38
NC_000009.11:g.136131600A>G , CM000671.1:g.136131600A>G	GRCh37
NC_000009.10:g.135121421A>G	NCBI36
NG_006669.1:g.21455T>C
NG_006669.2:g.24003T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.547T>C
ENST00000647353.1:n.54-5061T>C
ENST00000651471.1:n.473T>C
ENST00000679909.1:c.28+18949T>C	ENSP00000506089.1:n.28+18949T>C
ENST00000453660.3:n.529T>C
ENST00000538324.2:c.515T>C	ENSP00000483018.1:p.Leu172Pro
ENST00000611156.4:c.515T>C	ENSP00000483265.1:p.Leu172Pro
NM_020469.2:c.518T>C	NP_065202.2:p.Leu173Pro
NM_020469.3:c.518T>C	NP_065202.2:p.Leu173Pro