Canonical Allele Identifier: CA613011971
Gene: HEATR5A HGNC NCBI

Linked Data

dbSNP Id: rs1283586939
gnomAD v2: 14-31862975-A-G
gnomAD v3: 14-31393769-A-G
gnomAD v4: 14-31393769-A-G
MyVariant Identifiers: chr14:g.31862975A>G (hg19) chr14:g.31393769A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31393769A>G , CM000676.2:g.31393769A>G GRCh38
NC_000014.8:g.31862975A>G , CM000676.1:g.31862975A>G GRCh37
NC_000014.7:g.30932726A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000543095.7:c.772+283T>C MANE Select ENSP00000437968.2:n.772+283T>C
ENST00000543095.6:c.772+283T>C ENSP00000437968.2:n.772+283T>C
ENST00000549185.5:c.*868+283T>C ENSP00000446654.1:n.*868+283T>C
NM_015473.3:c.772+283T>C NP_056288.2:n.772+283T>C
NM_015473.4:c.772+283T>C MANE Select NP_056288.2:n.772+283T>C
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