Canonical Allele Identifier: CA389386278
Gene: HEATR5A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394103A>T , CM000676.2:g.31394103A>T GRCh38
NC_000014.8:g.31863309A>T , CM000676.1:g.31863309A>T GRCh37
NC_000014.7:g.30933060A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.721T>A MANE Select ENSP00000437968.2:p.Leu241Ile
ENST00000543095.6:c.721T>A ENSP00000437968.2:p.Leu241Ile
ENST00000549185.5:c.*817T>A ENSP00000446654.1:n.*817T>A
NM_015473.3:c.721T>A NP_056288.2:p.Leu241Ile
NM_015473.4:c.721T>A MANE Select NP_056288.2:p.Leu241Ile