Canonical Allele Identifier: CA375686271

Gene: ABO

Linked Data

• gnomAD v4: 9-133256250-G-C
• MyVariant Identifiers: chr9:g.136131637G>C (hg19) ; chr9:g.133256250G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256250G>C , CM000671.2:g.133256250G>C	GRCh38
NC_000009.11:g.136131637G>C , CM000671.1:g.136131637G>C	GRCh37
NC_000009.10:g.135121458G>C	NCBI36
NG_006669.1:g.21418C>G
NG_006669.2:g.23966C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.510C>G
ENST00000647353.1:n.54-5098C>G
ENST00000651471.1:n.436C>G
ENST00000679909.1:c.28+18912C>G	ENSP00000506089.1:n.28+18912C>G
ENST00000453660.3:n.492C>G
ENST00000538324.2:c.478C>G	ENSP00000483018.1:p.Arg160Gly
ENST00000611156.4:c.478C>G	ENSP00000483265.1:p.Arg160Gly
NM_020469.2:c.481C>G	NP_065202.2:p.Arg161Gly
NM_020469.3:c.481C>G	NP_065202.2:p.Arg161Gly