Canonical Allele Identifier: CA389385945
Gene: HEATR5A HGNC NCBI

Linked Data

gnomAD v4: 14-31394062-A-T
MyVariant Identifiers: chr14:g.31863268A>T (hg19) chr14:g.31394062A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394062A>T , CM000676.2:g.31394062A>T GRCh38
NC_000014.8:g.31863268A>T , CM000676.1:g.31863268A>T GRCh37
NC_000014.7:g.30933019A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.762T>A MANE Select ENSP00000437968.2:p.His254Gln
ENST00000543095.6:c.762T>A ENSP00000437968.2:p.His254Gln
ENST00000549185.5:c.*858T>A ENSP00000446654.1:n.*858T>A
NM_015473.3:c.762T>A NP_056288.2:p.His254Gln
NM_015473.4:c.762T>A MANE Select NP_056288.2:p.His254Gln
Search 100 bp 5'
Search 100 bp 3'