Canonical Allele Identifier: CA389386727

Gene: HEATR5A

Linked Data

• MyVariant Identifiers: chr14:g.31863348C>T (hg19) ; chr14:g.31394142C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.31394142C>T , CM000676.2:g.31394142C>T	GRCh38
NC_000014.8:g.31863348C>T , CM000676.1:g.31863348C>T	GRCh37
NC_000014.7:g.30933099C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000543095.7:c.682G>A MANE Select	ENSP00000437968.2:p.Glu228Lys
ENST00000543095.6:c.682G>A	ENSP00000437968.2:p.Glu228Lys
ENST00000549185.5:c.*778G>A	ENSP00000446654.1:n.*778G>A
NM_015473.3:c.682G>A	NP_056288.2:p.Glu228Lys
NM_015473.4:c.682G>A MANE Select	NP_056288.2:p.Glu228Lys