Canonical Allele Identifier: CA2624480708
Gene: HEATR5A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31393961T>G , CM000676.2:g.31393961T>G GRCh38
NC_000014.8:g.31863167T>G , CM000676.1:g.31863167T>G GRCh37
NC_000014.7:g.30932918T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.772+91A>C MANE Select ENSP00000437968.2:n.772+91A>C
ENST00000543095.6:c.772+91A>C ENSP00000437968.2:n.772+91A>C
ENST00000549185.5:c.*868+91A>C ENSP00000446654.1:n.*868+91A>C
NM_015473.3:c.772+91A>C NP_056288.2:n.772+91A>C
NM_015473.4:c.772+91A>C MANE Select NP_056288.2:n.772+91A>C