Canonical Allele Identifier: CA485849722
Gene: HEATR5A HGNC NCBI

Linked Data

gnomAD v4: 14-31394092-T-G
MyVariant Identifiers: chr14:g.31863298T>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394092T>G , CM000676.2:g.31394092T>G GRCh38
NC_000014.8:g.31863298T>G , CM000676.1:g.31863298T>G GRCh37
NC_000014.7:g.30933049T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.732A>C MANE Select ENSP00000437968.2:p.Ile244=
ENST00000543095.6:c.732A>C ENSP00000437968.2:p.Ile244=
ENST00000549185.5:c.*828A>C ENSP00000446654.1:n.*828A>C
NM_015473.3:c.732A>C NP_056288.2:p.Ile244=
NM_015473.4:c.732A>C MANE Select NP_056288.2:p.Ile244=
Search 100 bp 5'
Search 100 bp 3'