Canonical Allele Identifier: CA258630457
Gene: HEATR5A HGNC NCBI

Linked Data

dbSNP Id: rs1010718073

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394156C>T , CM000676.2:g.31394156C>T GRCh38
NC_000014.8:g.31863362C>T , CM000676.1:g.31863362C>T GRCh37
NC_000014.7:g.30933113C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.668G>A MANE Select ENSP00000437968.2:p.Cys223Tyr
ENST00000543095.6:c.668G>A ENSP00000437968.2:p.Cys223Tyr
ENST00000549185.5:c.*764G>A ENSP00000446654.1:n.*764G>A
NM_015473.3:c.668G>A NP_056288.2:p.Cys223Tyr
NM_015473.4:c.668G>A MANE Select NP_056288.2:p.Cys223Tyr