Canonical Allele Identifier: CA389386198
Gene: HEATR5A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394090A>T , CM000676.2:g.31394090A>T GRCh38
NC_000014.8:g.31863296A>T , CM000676.1:g.31863296A>T GRCh37
NC_000014.7:g.30933047A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.734T>A MANE Select ENSP00000437968.2:p.Ile245Lys
ENST00000543095.6:c.734T>A ENSP00000437968.2:p.Ile245Lys
ENST00000549185.5:c.*830T>A ENSP00000446654.1:n.*830T>A
NM_015473.3:c.734T>A NP_056288.2:p.Ile245Lys
NM_015473.4:c.734T>A MANE Select NP_056288.2:p.Ile245Lys