Canonical Allele Identifier: CA389386071
Gene: HEATR5A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394078G>C , CM000676.2:g.31394078G>C GRCh38
NC_000014.8:g.31863284G>C , CM000676.1:g.31863284G>C GRCh37
NC_000014.7:g.30933035G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.746C>G MANE Select ENSP00000437968.2:p.Ala249Gly
ENST00000543095.6:c.746C>G ENSP00000437968.2:p.Ala249Gly
ENST00000549185.5:c.*842C>G ENSP00000446654.1:n.*842C>G
NM_015473.3:c.746C>G NP_056288.2:p.Ala249Gly
NM_015473.4:c.746C>G MANE Select NP_056288.2:p.Ala249Gly