Canonical Allele Identifier: CA485849766
Gene: HEATR5A HGNC NCBI

Linked Data

dbSNP Id: rs1257463306
gnomAD v2: 14-31863358-A-G
gnomAD v4: 14-31394152-A-G
MyVariant Identifiers: chr14:g.31863358A>G (hg19) chr14:g.31394152A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394152A>G , CM000676.2:g.31394152A>G GRCh38
NC_000014.8:g.31863358A>G , CM000676.1:g.31863358A>G GRCh37
NC_000014.7:g.30933109A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.672T>C MANE Select ENSP00000437968.2:p.Phe224=
ENST00000543095.6:c.672T>C ENSP00000437968.2:p.Phe224=
ENST00000549185.5:c.*768T>C ENSP00000446654.1:n.*768T>C
NM_015473.3:c.672T>C NP_056288.2:p.Phe224=
NM_015473.4:c.672T>C MANE Select NP_056288.2:p.Phe224=
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