Canonical Allele Identifier: CA485849750
Gene: HEATR5A HGNC NCBI

Linked Data

dbSNP Id: rs1321598823
gnomAD v2: 14-31863328-C-G
gnomAD v3: 14-31394122-C-G
gnomAD v4: 14-31394122-C-G
MyVariant Identifiers: chr14:g.31863328C>G (hg19) chr14:g.31394122C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394122C>G , CM000676.2:g.31394122C>G GRCh38
NC_000014.8:g.31863328C>G , CM000676.1:g.31863328C>G GRCh37
NC_000014.7:g.30933079C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.702G>C MANE Select ENSP00000437968.2:p.Val234=
ENST00000543095.6:c.702G>C ENSP00000437968.2:p.Val234=
ENST00000549185.5:c.*798G>C ENSP00000446654.1:n.*798G>C
NM_015473.3:c.702G>C NP_056288.2:p.Val234=
NM_015473.4:c.702G>C MANE Select NP_056288.2:p.Val234=
Search 100 bp 5'
Search 100 bp 3'