Canonical Allele Identifier: CA2127219251
Gene: HEATR5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394078G= , CM000676.2:g.31394078G= GRCh38
NC_000014.8:g.31863284G= , CM000676.1:g.31863284G= GRCh37
NC_000014.7:g.30933035G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.746C= MANE Select ENSP00000437968.2:p.Ala249=
ENST00000543095.6:c.746C= ENSP00000437968.2:p.Ala249=
ENST00000549185.5:c.*842C= ENSP00000446654.1:n.*842C=
NM_015473.3:c.746C= NP_056288.2:p.Ala249=
NM_015473.4:c.746C= MANE Select NP_056288.2:p.Ala249=