Canonical Allele Identifier: CA5305761
Gene: ABO HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.133256028C>T
GRCh37 chr9:g.136131415C>T
gnomAD v2:
9:136131415 C / T
gnomAD v3:
9:133256028 C / T
gnomAD v4:
chr9-133256028-C-T
Joint Max Group AF 0.25606498 (SAS)
Genomes Max Group AF 0.24566546 (SAS)
Exomes Max Group AF 0.25606086 (SAS)
dbSNP:
8176743
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256028C>T , CM000671.2:g.133256028C>T GRCh38
NC_000009.11:g.136131415C>T , CM000671.1:g.136131415C>T GRCh37
NC_000009.10:g.135121236C>T NCBI36
NG_006669.1:g.21640G>A
NG_006669.2:g.24188G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.732G>A
ENST00000647353.1:n.54-4876G>A
ENST00000679909.1:c.28+19134G>A ENSP00000506089.1:n.28+19134G>A
ENST00000453660.3:n.714G>A
ENST00000538324.2:c.700G>A ENSP00000483018.1:p.Gly234Ser
ENST00000611156.4:c.700G>A ENSP00000483265.1:p.Gly234Ser
NM_020469.2:c.703G>A NP_065202.2:p.Gly235Ser
NM_020469.3:c.703G>A NP_065202.2:p.Gly235Ser
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