Canonical Allele Identifier: CA2127219282
Gene: HEATR5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394156C= , CM000676.2:g.31394156C= GRCh38
NC_000014.8:g.31863362C= , CM000676.1:g.31863362C= GRCh37
NC_000014.7:g.30933113C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.668G= MANE Select ENSP00000437968.2:p.Cys223=
ENST00000543095.6:c.668G= ENSP00000437968.2:p.Cys223=
ENST00000549185.5:c.*764G= ENSP00000446654.1:n.*764G=
NM_015473.3:c.668G= NP_056288.2:p.Cys223=
NM_015473.4:c.668G= MANE Select NP_056288.2:p.Cys223=