Canonical Allele Identifier: CA389385971
Gene: HEATR5A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394064G>C , CM000676.2:g.31394064G>C GRCh38
NC_000014.8:g.31863270G>C , CM000676.1:g.31863270G>C GRCh37
NC_000014.7:g.30933021G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.760C>G MANE Select ENSP00000437968.2:p.His254Asp
ENST00000543095.6:c.760C>G ENSP00000437968.2:p.His254Asp
ENST00000549185.5:c.*856C>G ENSP00000446654.1:n.*856C>G
NM_015473.3:c.760C>G NP_056288.2:p.His254Asp
NM_015473.4:c.760C>G MANE Select NP_056288.2:p.His254Asp