Canonical Allele Identifier: CA389386625
Gene: HEATR5A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394133T>A , CM000676.2:g.31394133T>A GRCh38
NC_000014.8:g.31863339T>A , CM000676.1:g.31863339T>A GRCh37
NC_000014.7:g.30933090T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.691A>T MANE Select ENSP00000437968.2:p.Asn231Tyr
ENST00000543095.6:c.691A>T ENSP00000437968.2:p.Asn231Tyr
ENST00000549185.5:c.*787A>T ENSP00000446654.1:n.*787A>T
NM_015473.3:c.691A>T NP_056288.2:p.Asn231Tyr
NM_015473.4:c.691A>T MANE Select NP_056288.2:p.Asn231Tyr