Canonical Allele Identifier: CA2624480758
Gene: HEATR5A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394034del , CM000676.2:g.31394034del GRCh38
NC_000014.8:g.31863240del , CM000676.1:g.31863240del GRCh37
NC_000014.7:g.30932991del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.772+21del MANE Select ENSP00000437968.2:n.772+21del
ENST00000543095.6:c.772+21del ENSP00000437968.2:n.772+21del
ENST00000549185.5:c.*868+21del ENSP00000446654.1:n.*868+21del
NM_015473.3:c.772+21del NP_056288.2:n.772+21del
NM_015473.4:c.772+21del MANE Select NP_056288.2:n.772+21del