Canonical Allele Identifier: CA389386340
Gene: HEATR5A HGNC NCBI

Linked Data

dbSNP Id: rs2030557780
gnomAD v3: 14-31394109-A-C
gnomAD v4: 14-31394109-A-C
MyVariant Identifiers: chr14:g.31863315A>C (hg19) chr14:g.31394109A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394109A>C , CM000676.2:g.31394109A>C GRCh38
NC_000014.8:g.31863315A>C , CM000676.1:g.31863315A>C GRCh37
NC_000014.7:g.30933066A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.715T>G MANE Select ENSP00000437968.2:p.Ser239Ala
ENST00000543095.6:c.715T>G ENSP00000437968.2:p.Ser239Ala
ENST00000549185.5:c.*811T>G ENSP00000446654.1:n.*811T>G
NM_015473.3:c.715T>G NP_056288.2:p.Ser239Ala
NM_015473.4:c.715T>G MANE Select NP_056288.2:p.Ser239Ala
Search 100 bp 5'
Search 100 bp 3'