Canonical Allele Identifier: CA2127219253
Gene: HEATR5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394081T= , CM000676.2:g.31394081T= GRCh38
NC_000014.8:g.31863287T= , CM000676.1:g.31863287T= GRCh37
NC_000014.7:g.30933038T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.743A= MANE Select ENSP00000437968.2:p.Lys248=
ENST00000543095.6:c.743A= ENSP00000437968.2:p.Lys248=
ENST00000549185.5:c.*839A= ENSP00000446654.1:n.*839A=
NM_015473.3:c.743A= NP_056288.2:p.Lys248=
NM_015473.4:c.743A= MANE Select NP_056288.2:p.Lys248=