ClinGen Allele Registry
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Canonical Allele Identifier:
CA5305706
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs782673243
ExAC:
9:136131268 A / T
gnomAD v2:
9-136131268-A-T
gnomAD v3:
9-133255881-A-T
gnomAD v4:
9-133255881-A-T
MyVariant Identifiers:
chr9:g.136131268A>T (hg19)
chr9:g.133255881A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255881A>T , CM000671.2:g.133255881A>T
GRCh38
NC_000009.11:g.136131268A>T , CM000671.1:g.136131268A>T
GRCh37
NC_000009.10:g.135121089A>T
NCBI36
NG_006669.1:g.21787T>A
NG_006669.2:g.24335T>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.879T>A
ENST00000647353.1:n.54-4729T>A
ENST00000679909.1:c.28+19281T>A
ENSP00000506089.1:n.28+19281T>A
ENST00000453660.3:n.861T>A
ENST00000538324.2:c.847T>A
ENSP00000483018.1:p.Cys283Ser
ENST00000611156.4:c.847T>A
ENSP00000483265.1:p.Cys283Ser
NM_020469.2:c.850T>A
NP_065202.2:p.Cys284Ser
NM_020469.3:c.850T>A
NP_065202.2:p.Cys284Ser
Search 100 bp 5'
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