Canonical Allele Identifier: CA258630291
Gene: HEATR5A HGNC NCBI

Linked Data

dbSNP Id: rs144097440

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31393749G>C , CM000676.2:g.31393749G>C GRCh38
NC_000014.8:g.31862955G>C , CM000676.1:g.31862955G>C GRCh37
NC_000014.7:g.30932706G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.772+303C>G MANE Select ENSP00000437968.2:n.772+303C>G
ENST00000543095.6:c.772+303C>G ENSP00000437968.2:n.772+303C>G
ENST00000549185.5:c.*868+303C>G ENSP00000446654.1:n.*868+303C>G
NM_015473.3:c.772+303C>G NP_056288.2:n.772+303C>G
NM_015473.4:c.772+303C>G MANE Select NP_056288.2:n.772+303C>G