Canonical Allele Identifier: CA389386255
Gene: HEATR5A HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.31863306G>T (hg19) chr14:g.31394100G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394100G>T , CM000676.2:g.31394100G>T GRCh38
NC_000014.8:g.31863306G>T , CM000676.1:g.31863306G>T GRCh37
NC_000014.7:g.30933057G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.724C>A MANE Select ENSP00000437968.2:p.Leu242Ile
ENST00000543095.6:c.724C>A ENSP00000437968.2:p.Leu242Ile
ENST00000549185.5:c.*820C>A ENSP00000446654.1:n.*820C>A
NM_015473.3:c.724C>A NP_056288.2:p.Leu242Ile
NM_015473.4:c.724C>A MANE Select NP_056288.2:p.Leu242Ile
Search 100 bp 5'
Search 100 bp 3'