Canonical Allele Identifier: CA2127219189
Gene: HEATR5A HGNC NCBI

Linked Data

dbSNP Id: rs2030550637
gnomAD v4: 14-31393931-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31393931A>G , CM000676.2:g.31393931A>G GRCh38
NC_000014.8:g.31863137A>G , CM000676.1:g.31863137A>G GRCh37
NC_000014.7:g.30932888A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.772+121T>C MANE Select ENSP00000437968.2:n.772+121T>C
ENST00000543095.6:c.772+121T>C ENSP00000437968.2:n.772+121T>C
ENST00000549185.5:c.*868+121T>C ENSP00000446654.1:n.*868+121T>C
NM_015473.3:c.772+121T>C NP_056288.2:n.772+121T>C
NM_015473.4:c.772+121T>C MANE Select NP_056288.2:n.772+121T>C
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