Canonical Allele Identifier: CA258630338
Gene: HEATR5A HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs10138277

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31393927T>C , CM000676.2:g.31393927T>C GRCh38
NC_000014.8:g.31863133T>C , CM000676.1:g.31863133T>C GRCh37
NC_000014.7:g.30932884T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_015473.3:c.772+125A>G VV NP_056288.2:p.=
NM_015473.4:c.772+125A>G VV MANE Preferred NP_056288.2:p.=
ENST00000543095.6:c.772+125A>G ENSP00000437968.2:p.=
ENST00000549185.5:c.*868+125A>G ENSP00000446654.1:p.=