Canonical Allele Identifier: CA485849748
Gene: HEATR5A HGNC NCBI

Linked Data

gnomAD v4: 14-31394121-G-T
MyVariant Identifiers: chr14:g.31863327G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394121G>T , CM000676.2:g.31394121G>T GRCh38
NC_000014.8:g.31863327G>T , CM000676.1:g.31863327G>T GRCh37
NC_000014.7:g.30933078G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.703C>A MANE Select ENSP00000437968.2:p.Arg235=
ENST00000543095.6:c.703C>A ENSP00000437968.2:p.Arg235=
ENST00000549185.5:c.*799C>A ENSP00000446654.1:n.*799C>A
NM_015473.3:c.703C>A NP_056288.2:p.Arg235=
NM_015473.4:c.703C>A MANE Select NP_056288.2:p.Arg235=
Search 100 bp 5'
Search 100 bp 3'