Canonical Allele Identifier: CA485849749
Gene: HEATR5A HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.31863328C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394122C>A , CM000676.2:g.31394122C>A GRCh38
NC_000014.8:g.31863328C>A , CM000676.1:g.31863328C>A GRCh37
NC_000014.7:g.30933079C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.702G>T MANE Select ENSP00000437968.2:p.Val234=
ENST00000543095.6:c.702G>T ENSP00000437968.2:p.Val234=
ENST00000549185.5:c.*798G>T ENSP00000446654.1:n.*798G>T
NM_015473.3:c.702G>T NP_056288.2:p.Val234=
NM_015473.4:c.702G>T MANE Select NP_056288.2:p.Val234=