Canonical Allele Identifier: CA389386383
Gene: HEATR5A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394115A>G , CM000676.2:g.31394115A>G GRCh38
NC_000014.8:g.31863321A>G , CM000676.1:g.31863321A>G GRCh37
NC_000014.7:g.30933072A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.709T>C MANE Select ENSP00000437968.2:p.Ser237Pro
ENST00000543095.6:c.709T>C ENSP00000437968.2:p.Ser237Pro
ENST00000549185.5:c.*805T>C ENSP00000446654.1:n.*805T>C
NM_015473.3:c.709T>C NP_056288.2:p.Ser237Pro
NM_015473.4:c.709T>C MANE Select NP_056288.2:p.Ser237Pro