Canonical Allele Identifier: CA485849729
Gene: HEATR5A HGNC NCBI

Linked Data

dbSNP Id: rs1456856763
gnomAD v2: 14-31863304-T-A
gnomAD v3: 14-31394098-T-A
gnomAD v4: 14-31394098-T-A
MyVariant Identifiers: chr14:g.31863304T>A (hg19) chr14:g.31394098T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394098T>A , CM000676.2:g.31394098T>A GRCh38
NC_000014.8:g.31863304T>A , CM000676.1:g.31863304T>A GRCh37
NC_000014.7:g.30933055T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.726A>T MANE Select ENSP00000437968.2:p.Leu242=
ENST00000543095.6:c.726A>T ENSP00000437968.2:p.Leu242=
ENST00000549185.5:c.*822A>T ENSP00000446654.1:n.*822A>T
NM_015473.3:c.726A>T NP_056288.2:p.Leu242=
NM_015473.4:c.726A>T MANE Select NP_056288.2:p.Leu242=
Search 100 bp 5'
Search 100 bp 3'