Canonical Allele Identifier: CA389386672
Gene: HEATR5A HGNC NCBI

Linked Data

gnomAD v4: 14-31394138-C-A
MyVariant Identifiers: chr14:g.31863344C>A (hg19) chr14:g.31394138C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394138C>A , CM000676.2:g.31394138C>A GRCh38
NC_000014.8:g.31863344C>A , CM000676.1:g.31863344C>A GRCh37
NC_000014.7:g.30933095C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.686G>T MANE Select ENSP00000437968.2:p.Gly229Val
ENST00000543095.6:c.686G>T ENSP00000437968.2:p.Gly229Val
ENST00000549185.5:c.*782G>T ENSP00000446654.1:n.*782G>T
NM_015473.3:c.686G>T NP_056288.2:p.Gly229Val
NM_015473.4:c.686G>T MANE Select NP_056288.2:p.Gly229Val
Search 100 bp 5'
Search 100 bp 3'