Canonical Allele Identifier: CA2127219275
Gene: HEATR5A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394136A= , CM000676.2:g.31394136A= GRCh38
NC_000014.8:g.31863342A= , CM000676.1:g.31863342A= GRCh37
NC_000014.7:g.30933093A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.688T= MANE Select ENSP00000437968.2:p.Ser230=
ENST00000543095.6:c.688T= ENSP00000437968.2:p.Ser230=
ENST00000549185.5:c.*784T= ENSP00000446654.1:n.*784T=
NM_015473.3:c.688T= NP_056288.2:p.Ser230=
NM_015473.4:c.688T= MANE Select NP_056288.2:p.Ser230=
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