Canonical Allele Identifier: CA389386226
Gene: HEATR5A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394093A>T , CM000676.2:g.31394093A>T GRCh38
NC_000014.8:g.31863299A>T , CM000676.1:g.31863299A>T GRCh37
NC_000014.7:g.30933050A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.731T>A MANE Select ENSP00000437968.2:p.Ile244Lys
ENST00000543095.6:c.731T>A ENSP00000437968.2:p.Ile244Lys
ENST00000549185.5:c.*827T>A ENSP00000446654.1:n.*827T>A
NM_015473.3:c.731T>A NP_056288.2:p.Ile244Lys
NM_015473.4:c.731T>A MANE Select NP_056288.2:p.Ile244Lys