Canonical Allele Identifier: CA258630433
Gene: HEATR5A HGNC NCBI

Linked Data

dbSNP Id: rs575342566
gnomAD v2: 14-31863327-G-A
gnomAD v3: 14-31394121-G-A
gnomAD v4: 14-31394121-G-A
COSMIC: COSM2195117 COSM2195118 COSM4245339
MyVariant Identifiers: chr14:g.31863327G>A (hg19) chr14:g.31394121G>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.703C>T MANE Select ENSP00000437968.2:p.Arg235Trp
ENST00000543095.6:c.703C>T ENSP00000437968.2:p.Arg235Trp
ENST00000549185.5:c.*799C>T ENSP00000446654.1:n.*799C>T
NM_015473.3:c.703C>T NP_056288.2:p.Arg235Trp
NM_015473.4:c.703C>T MANE Select NP_056288.2:p.Arg235Trp
Search 100 bp 5'
Search 100 bp 3'