Canonical Allele Identifier: CA389386252
Gene: HEATR5A HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.31863305A>C (hg19) chr14:g.31394099A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394099A>C , CM000676.2:g.31394099A>C GRCh38
NC_000014.8:g.31863305A>C , CM000676.1:g.31863305A>C GRCh37
NC_000014.7:g.30933056A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.725T>G MANE Select ENSP00000437968.2:p.Leu242Arg
ENST00000543095.6:c.725T>G ENSP00000437968.2:p.Leu242Arg
ENST00000549185.5:c.*821T>G ENSP00000446654.1:n.*821T>G
NM_015473.3:c.725T>G NP_056288.2:p.Leu242Arg
NM_015473.4:c.725T>G MANE Select NP_056288.2:p.Leu242Arg
Search 100 bp 5'
Search 100 bp 3'