Canonical Allele Identifier: CA258630441
Gene: HEATR5A HGNC NCBI

Linked Data

dbSNP Id: rs199712306
gnomAD v2: 14-31863331-A-G
gnomAD v3: 14-31394125-A-G
gnomAD v4: 14-31394125-A-G
MyVariant Identifiers: chr14:g.31863331A>G (hg19) chr14:g.31394125A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394125A>G , CM000676.2:g.31394125A>G GRCh38
NC_000014.8:g.31863331A>G , CM000676.1:g.31863331A>G GRCh37
NC_000014.7:g.30933082A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.699T>C MANE Select ENSP00000437968.2:p.Asp233=
ENST00000543095.6:c.699T>C ENSP00000437968.2:p.Asp233=
ENST00000549185.5:c.*795T>C ENSP00000446654.1:n.*795T>C
NM_015473.3:c.699T>C NP_056288.2:p.Asp233=
NM_015473.4:c.699T>C MANE Select NP_056288.2:p.Asp233=
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Search 100 bp 3'