ClinGen Allele Registry
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Canonical Allele Identifier:
CA5305688
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs782639117
ExAC:
9:136131205 G / T
gnomAD v2:
9-136131205-G-T
gnomAD v4:
9-133255818-G-T
MyVariant Identifiers:
chr9:g.136131205G>T (hg19)
chr9:g.133255818G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255818G>T , CM000671.2:g.133255818G>T
GRCh38
NC_000009.11:g.136131205G>T , CM000671.1:g.136131205G>T
GRCh37
NC_000009.10:g.135121026G>T
NCBI36
NG_006669.1:g.21850C>A
NG_006669.2:g.24398C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.942C>A
ENST00000647353.1:n.54-4666C>A
ENST00000679909.1:c.28+19344C>A
ENSP00000506089.1:n.28+19344C>A
ENST00000453660.3:n.924C>A
ENST00000538324.2:c.910C>A
ENSP00000483018.1:p.His304Asn
ENST00000611156.4:c.910C>A
ENSP00000483265.1:p.His304Asn
NM_020469.2:c.913C>A
NP_065202.2:p.His305Asn
NM_020469.3:c.913C>A
NP_065202.2:p.His305Asn
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