Canonical Allele Identifier: CA2801067541
Gene: HEATR5A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31393775A>C , CM000676.2:g.31393775A>C GRCh38
NC_000014.8:g.31862981A>C , CM000676.1:g.31862981A>C GRCh37
NC_000014.7:g.30932732A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000543095.7:c.772+277T>G MANE Select ENSP00000437968.2:n.772+277T>G
ENST00000543095.6:c.772+277T>G ENSP00000437968.2:n.772+277T>G
ENST00000549185.5:c.*868+277T>G ENSP00000446654.1:n.*868+277T>G
NM_015473.3:c.772+277T>G NP_056288.2:n.772+277T>G
NM_015473.4:c.772+277T>G MANE Select NP_056288.2:n.772+277T>G
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