Canonical Allele Identifier: CA389386309
Gene: HEATR5A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394106T>A , CM000676.2:g.31394106T>A GRCh38
NC_000014.8:g.31863312T>A , CM000676.1:g.31863312T>A GRCh37
NC_000014.7:g.30933063T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.718A>T MANE Select ENSP00000437968.2:p.Lys240Ter
ENST00000543095.6:c.718A>T ENSP00000437968.2:p.Lys240Ter
ENST00000549185.5:c.*814A>T ENSP00000446654.1:n.*814A>T
NM_015473.3:c.718A>T NP_056288.2:p.Lys240Ter
NM_015473.4:c.718A>T MANE Select NP_056288.2:p.Lys240Ter