Canonical Allele Identifier: CA5305733
Gene: ABO HGNC NCBI

Linked Data

dbSNP Id: rs8176746
ExAC: 9:136131322 G / T
gnomAD v2: 9-136131322-G-T
gnomAD v3: 9-133255935-G-T
gnomAD v4: 9-133255935-G-T
MyVariant Identifiers: chr9:g.136131322G>T (hg19) chr9:g.133255935G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255935G>T , CM000671.2:g.133255935G>T GRCh38
NC_000009.11:g.136131322G>T , CM000671.1:g.136131322G>T GRCh37
NC_000009.10:g.135121143G>T NCBI36
NG_006669.1:g.21733C>A
NG_006669.2:g.24281C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.825C>A
ENST00000647353.1:n.54-4783C>A
ENST00000679909.1:c.28+19227C>A ENSP00000506089.1:n.28+19227C>A
ENST00000453660.3:n.807C>A
ENST00000538324.2:c.793C>A ENSP00000483018.1:p.Leu265Met
ENST00000611156.4:c.793C>A ENSP00000483265.1:p.Leu265Met
NM_020469.2:c.796C>A NP_065202.2:p.Leu266Met
NM_020469.3:c.796C>A NP_065202.2:p.Leu266Met
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