Canonical Allele Identifier: CA2127219250
Gene: HEATR5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394077A= , CM000676.2:g.31394077A= GRCh38
NC_000014.8:g.31863283A= , CM000676.1:g.31863283A= GRCh37
NC_000014.7:g.30933034A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.747T= MANE Select ENSP00000437968.2:p.Ala249=
ENST00000543095.6:c.747T= ENSP00000437968.2:p.Ala249=
ENST00000549185.5:c.*843T= ENSP00000446654.1:n.*843T=
NM_015473.3:c.747T= NP_056288.2:p.Ala249=
NM_015473.4:c.747T= MANE Select NP_056288.2:p.Ala249=