Canonical Allele Identifier: CA2127219267
Gene: HEATR5A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394122C= , CM000676.2:g.31394122C= GRCh38
NC_000014.8:g.31863328C= , CM000676.1:g.31863328C= GRCh37
NC_000014.7:g.30933079C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.702G= MANE Select ENSP00000437968.2:p.Val234=
ENST00000543095.6:c.702G= ENSP00000437968.2:p.Val234=
ENST00000549185.5:c.*798G= ENSP00000446654.1:n.*798G=
NM_015473.3:c.702G= NP_056288.2:p.Val234=
NM_015473.4:c.702G= MANE Select NP_056288.2:p.Val234=
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