Canonical Allele Identifier: CA961631971
Gene: HEATR5A HGNC NCBI

Linked Data

dbSNP Id: rs2030552555
gnomAD v3: 14-31393974-T-G
gnomAD v4: 14-31393974-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31393974T>G , CM000676.2:g.31393974T>G GRCh38
NC_000014.8:g.31863180T>G , CM000676.1:g.31863180T>G GRCh37
NC_000014.7:g.30932931T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.772+78A>C MANE Select ENSP00000437968.2:n.772+78A>C
ENST00000543095.6:c.772+78A>C ENSP00000437968.2:n.772+78A>C
ENST00000549185.5:c.*868+78A>C ENSP00000446654.1:n.*868+78A>C
NM_015473.3:c.772+78A>C NP_056288.2:n.772+78A>C
NM_015473.4:c.772+78A>C MANE Select NP_056288.2:n.772+78A>C
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