Canonical Allele Identifier: CA258630436
Gene: HEATR5A HGNC NCBI

Linked Data

dbSNP Id: rs575342566

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.703C>G MANE Select ENSP00000437968.2:p.Arg235Gly
ENST00000543095.6:c.703C>G ENSP00000437968.2:p.Arg235Gly
ENST00000549185.5:c.*799C>G ENSP00000446654.1:n.*799C>G
NM_015473.3:c.703C>G NP_056288.2:p.Arg235Gly
NM_015473.4:c.703C>G MANE Select NP_056288.2:p.Arg235Gly