Canonical Allele Identifier: CA485849724
Gene: HEATR5A HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.31863301G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394095G>A , CM000676.2:g.31394095G>A GRCh38
NC_000014.8:g.31863301G>A , CM000676.1:g.31863301G>A GRCh37
NC_000014.7:g.30933052G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.729C>T MANE Select ENSP00000437968.2:p.Gly243=
ENST00000543095.6:c.729C>T ENSP00000437968.2:p.Gly243=
ENST00000549185.5:c.*825C>T ENSP00000446654.1:n.*825C>T
NM_015473.3:c.729C>T NP_056288.2:p.Gly243=
NM_015473.4:c.729C>T MANE Select NP_056288.2:p.Gly243=