Canonical Allele Identifier: CA2127219261
Gene: HEATR5A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394108G= , CM000676.2:g.31394108G= GRCh38
NC_000014.8:g.31863314G= , CM000676.1:g.31863314G= GRCh37
NC_000014.7:g.30933065G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.716C= MANE Select ENSP00000437968.2:p.Ser239=
ENST00000543095.6:c.716C= ENSP00000437968.2:p.Ser239=
ENST00000549185.5:c.*812C= ENSP00000446654.1:n.*812C=
NM_015473.3:c.716C= NP_056288.2:p.Ser239=
NM_015473.4:c.716C= MANE Select NP_056288.2:p.Ser239=
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