Canonical Allele Identifier: CA375686388

Gene: ABO

Linked Data

• gnomAD v4: 9-133256304-C-T
• MyVariant Identifiers: chr9:g.136131691C>T (hg19) ; chr9:g.133256304C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.456G>A
ENST00000647353.1:n.54-5152G>A
ENST00000651471.1:n.382G>A
ENST00000679909.1:c.28+18858G>A	ENSP00000506089.1:n.28+18858G>A
ENST00000453660.3:n.438G>A
ENST00000538324.2:c.424G>A	ENSP00000483018.1:p.Val142Met
ENST00000611156.4:c.424G>A	ENSP00000483265.1:p.Val142Met
NM_020469.2:c.427G>A	NP_065202.2:p.Val143Met
NM_020469.3:c.427G>A	NP_065202.2:p.Val143Met