Canonical Allele Identifier: CA2127219110
Gene: HEATR5A HGNC NCBI

Linked Data

dbSNP Id: rs2030543634

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31393750G>A , CM000676.2:g.31393750G>A GRCh38
NC_000014.8:g.31862956G>A , CM000676.1:g.31862956G>A GRCh37
NC_000014.7:g.30932707G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.772+302C>T MANE Select ENSP00000437968.2:n.772+302C>T
ENST00000543095.6:c.772+302C>T ENSP00000437968.2:n.772+302C>T
ENST00000549185.5:c.*868+302C>T ENSP00000446654.1:n.*868+302C>T
NM_015473.3:c.772+302C>T NP_056288.2:n.772+302C>T
NM_015473.4:c.772+302C>T MANE Select NP_056288.2:n.772+302C>T