Canonical Allele Identifier: CA389386733

Gene: HEATR5A

Linked Data

• MyVariant Identifiers: chr14:g.31863349A>T (hg19) ; chr14:g.31394143A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.31394143A>T , CM000676.2:g.31394143A>T	GRCh38
NC_000014.8:g.31863349A>T , CM000676.1:g.31863349A>T	GRCh37
NC_000014.7:g.30933100A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000543095.7:c.681T>A MANE Select	ENSP00000437968.2:p.Phe227Leu
ENST00000543095.6:c.681T>A	ENSP00000437968.2:p.Phe227Leu
ENST00000549185.5:c.*777T>A	ENSP00000446654.1:n.*777T>A
NM_015473.3:c.681T>A	NP_056288.2:p.Phe227Leu
NM_015473.4:c.681T>A MANE Select	NP_056288.2:p.Phe227Leu