Canonical Allele Identifier: CA389385949
Gene: HEATR5A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394063T>A , CM000676.2:g.31394063T>A GRCh38
NC_000014.8:g.31863269T>A , CM000676.1:g.31863269T>A GRCh37
NC_000014.7:g.30933020T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.761A>T MANE Select ENSP00000437968.2:p.His254Leu
ENST00000543095.6:c.761A>T ENSP00000437968.2:p.His254Leu
ENST00000549185.5:c.*857A>T ENSP00000446654.1:n.*857A>T
NM_015473.3:c.761A>T NP_056288.2:p.His254Leu
NM_015473.4:c.761A>T MANE Select NP_056288.2:p.His254Leu