Canonical Allele Identifier: CA389386247
Gene: HEATR5A HGNC NCBI

Linked Data

gnomAD v4: 14-31394099-A-G
MyVariant Identifiers: chr14:g.31863305A>G (hg19) chr14:g.31394099A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394099A>G , CM000676.2:g.31394099A>G GRCh38
NC_000014.8:g.31863305A>G , CM000676.1:g.31863305A>G GRCh37
NC_000014.7:g.30933056A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.725T>C MANE Select ENSP00000437968.2:p.Leu242Pro
ENST00000543095.6:c.725T>C ENSP00000437968.2:p.Leu242Pro
ENST00000549185.5:c.*821T>C ENSP00000446654.1:n.*821T>C
NM_015473.3:c.725T>C NP_056288.2:p.Leu242Pro
NM_015473.4:c.725T>C MANE Select NP_056288.2:p.Leu242Pro
Search 100 bp 5'
Search 100 bp 3'