Canonical Allele Identifier: CA2127219277
Gene: HEATR5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394144A= , CM000676.2:g.31394144A= GRCh38
NC_000014.8:g.31863350A= , CM000676.1:g.31863350A= GRCh37
NC_000014.7:g.30933101A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.680T= MANE Select ENSP00000437968.2:p.Phe227=
ENST00000543095.6:c.680T= ENSP00000437968.2:p.Phe227=
ENST00000549185.5:c.*776T= ENSP00000446654.1:n.*776T=
NM_015473.3:c.680T= NP_056288.2:p.Phe227=
NM_015473.4:c.680T= MANE Select NP_056288.2:p.Phe227=