Canonical Allele Identifier: CA485849705
Gene: HEATR5A HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.31863274A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394068A>C , CM000676.2:g.31394068A>C GRCh38
NC_000014.8:g.31863274A>C , CM000676.1:g.31863274A>C GRCh37
NC_000014.7:g.30933025A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.756T>G MANE Select ENSP00000437968.2:p.Ser252=
ENST00000543095.6:c.756T>G ENSP00000437968.2:p.Ser252=
ENST00000549185.5:c.*852T>G ENSP00000446654.1:n.*852T>G
NM_015473.3:c.756T>G NP_056288.2:p.Ser252=
NM_015473.4:c.756T>G MANE Select NP_056288.2:p.Ser252=