ClinGen Allele Registry
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Canonical Allele Identifier:
CA375686268
Gene: ABO
HGNC
NCBI
Linked Data
gnomAD v4:
9-133256247-C-A
MyVariant Identifiers:
chr9:g.136131634C>A (hg19)
chr9:g.133256247C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256247C>A , CM000671.2:g.133256247C>A
GRCh38
NC_000009.11:g.136131634C>A , CM000671.1:g.136131634C>A
GRCh37
NC_000009.10:g.135121455C>A
NCBI36
NG_006669.1:g.21421G>T
NG_006669.2:g.23969G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.513G>T
ENST00000647353.1:n.54-5095G>T
ENST00000651471.1:n.439G>T
ENST00000679909.1:c.28+18915G>T
ENSP00000506089.1:n.28+18915G>T
ENST00000453660.3:n.495G>T
ENST00000538324.2:c.481G>T
ENSP00000483018.1:p.Val161Leu
ENST00000611156.4:c.481G>T
ENSP00000483265.1:p.Val161Leu
NM_020469.2:c.484G>T
NP_065202.2:p.Val162Leu
NM_020469.3:c.484G>T
NP_065202.2:p.Val162Leu
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