Canonical Allele Identifier: CA375686463

Gene: ABO

Linked Data

• dbSNP Id: rs1419107219
• gnomAD v2: 9-136131724-G-T
• gnomAD v3: 9-133256337-G-T
• gnomAD v4: 9-133256337-G-T
• MyVariant Identifiers: chr9:g.136131724G>T (hg19) ; chr9:g.133256337G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256337G>T , CM000671.2:g.133256337G>T	GRCh38
NC_000009.11:g.136131724G>T , CM000671.1:g.136131724G>T	GRCh37
NC_000009.10:g.135121545G>T	NCBI36
NG_006669.1:g.21331C>A
NG_006669.2:g.23879C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.423C>A
ENST00000647353.1:n.54-5185C>A
ENST00000651471.1:n.349C>A
ENST00000679909.1:c.28+18825C>A	ENSP00000506089.1:n.28+18825C>A
ENST00000453660.3:n.405C>A
ENST00000538324.2:c.391C>A	ENSP00000483018.1:p.Leu131Met
ENST00000611156.4:c.391C>A	ENSP00000483265.1:p.Leu131Met
NM_020469.2:c.394C>A	NP_065202.2:p.Leu132Met
NM_020469.3:c.394C>A	NP_065202.2:p.Leu132Met