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Canonical Allele Identifier:
CA375685303
Gene: ABO
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr9:g.133255995A>C
GRCh37
chr9:g.136131382A>C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255995A>C , CM000671.2:g.133255995A>C
GRCh38
NC_000009.11:g.136131382A>C , CM000671.1:g.136131382A>C
GRCh37
NC_000009.10:g.135121203A>C
NCBI36
NG_006669.1:g.21673T>G
NG_006669.2:g.24221T>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.765T>G
ENST00000647353.1:n.54-4843T>G
ENST00000679909.1:c.28+19167T>G
ENSP00000506089.1:n.28+19167T>G
ENST00000453660.3:n.747T>G
ENST00000538324.2:c.733T>G
ENSP00000483018.1:p.Tyr245Asp
ENST00000611156.4:c.733T>G
ENSP00000483265.1:p.Tyr245Asp
NM_020469.2:c.736T>G
NP_065202.2:p.Tyr246Asp
NM_020469.3:c.736T>G
NP_065202.2:p.Tyr246Asp
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