Canonical Allele Identifier: CA2127219225
Gene: HEATR5A HGNC NCBI

Linked Data

dbSNP Id: rs2030554084
gnomAD v4: 14-31394005-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394005G>A , CM000676.2:g.31394005G>A GRCh38
NC_000014.8:g.31863211G>A , CM000676.1:g.31863211G>A GRCh37
NC_000014.7:g.30932962G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.772+47C>T MANE Select ENSP00000437968.2:n.772+47C>T
ENST00000543095.6:c.772+47C>T ENSP00000437968.2:n.772+47C>T
ENST00000549185.5:c.*868+47C>T ENSP00000446654.1:n.*868+47C>T
NM_015473.3:c.772+47C>T NP_056288.2:n.772+47C>T
NM_015473.4:c.772+47C>T MANE Select NP_056288.2:n.772+47C>T
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