Canonical Allele Identifier: CA258630296
Gene: HEATR5A HGNC NCBI

Linked Data

dbSNP Id: rs774600005

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31393780G>A , CM000676.2:g.31393780G>A GRCh38
NC_000014.8:g.31862986G>A , CM000676.1:g.31862986G>A GRCh37
NC_000014.7:g.30932737G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.772+272C>T MANE Select ENSP00000437968.2:n.772+272C>T
ENST00000543095.6:c.772+272C>T ENSP00000437968.2:n.772+272C>T
ENST00000549185.5:c.*868+272C>T ENSP00000446654.1:n.*868+272C>T
NM_015473.3:c.772+272C>T NP_056288.2:n.772+272C>T
NM_015473.4:c.772+272C>T MANE Select NP_056288.2:n.772+272C>T