Canonical Allele Identifier: CA485849758
Gene: HEATR5A HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.31863343A>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394137A>C , CM000676.2:g.31394137A>C GRCh38
NC_000014.8:g.31863343A>C , CM000676.1:g.31863343A>C GRCh37
NC_000014.7:g.30933094A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.687T>G MANE Select ENSP00000437968.2:p.Gly229=
ENST00000543095.6:c.687T>G ENSP00000437968.2:p.Gly229=
ENST00000549185.5:c.*783T>G ENSP00000446654.1:n.*783T>G
NM_015473.3:c.687T>G NP_056288.2:p.Gly229=
NM_015473.4:c.687T>G MANE Select NP_056288.2:p.Gly229=
Search 100 bp 5'
Search 100 bp 3'