Canonical Allele Identifier: CA2127219269
Gene: HEATR5A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394124C= , CM000676.2:g.31394124C= GRCh38
NC_000014.8:g.31863330C= , CM000676.1:g.31863330C= GRCh37
NC_000014.7:g.30933081C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.700G= MANE Select ENSP00000437968.2:p.Val234=
ENST00000543095.6:c.700G= ENSP00000437968.2:p.Val234=
ENST00000549185.5:c.*796G= ENSP00000446654.1:n.*796G=
NM_015473.3:c.700G= NP_056288.2:p.Val234=
NM_015473.4:c.700G= MANE Select NP_056288.2:p.Val234=
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