Canonical Allele Identifier: CA375686387

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131691C>G (hg19) ; chr9:g.133256304C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256304C>G , CM000671.2:g.133256304C>G	GRCh38
NC_000009.11:g.136131691C>G , CM000671.1:g.136131691C>G	GRCh37
NC_000009.10:g.135121512C>G	NCBI36
NG_006669.1:g.21364G>C
NG_006669.2:g.23912G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.456G>C
ENST00000647353.1:n.54-5152G>C
ENST00000651471.1:n.382G>C
ENST00000679909.1:c.28+18858G>C	ENSP00000506089.1:n.28+18858G>C
ENST00000453660.3:n.438G>C
ENST00000538324.2:c.424G>C	ENSP00000483018.1:p.Val142Leu
ENST00000611156.4:c.424G>C	ENSP00000483265.1:p.Val142Leu
NM_020469.2:c.427G>C	NP_065202.2:p.Val143Leu
NM_020469.3:c.427G>C	NP_065202.2:p.Val143Leu