Canonical Allele Identifier: CA389386056

Gene: HEATR5A

Linked Data

• MyVariant Identifiers: chr14:g.31863282C>A (hg19) ; chr14:g.31394076C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.31394076C>A , CM000676.2:g.31394076C>A	GRCh38
NC_000014.8:g.31863282C>A , CM000676.1:g.31863282C>A	GRCh37
NC_000014.7:g.30933033C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000543095.7:c.748G>T MANE Select	ENSP00000437968.2:p.Val250Leu
ENST00000543095.6:c.748G>T	ENSP00000437968.2:p.Val250Leu
ENST00000549185.5:c.*844G>T	ENSP00000446654.1:n.*844G>T
NM_015473.3:c.748G>T	NP_056288.2:p.Val250Leu
NM_015473.4:c.748G>T MANE Select	NP_056288.2:p.Val250Leu