Canonical Allele Identifier: CA389386856
Gene: HEATR5A HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.31863357T>G (hg19) chr14:g.31394151T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394151T>G , CM000676.2:g.31394151T>G GRCh38
NC_000014.8:g.31863357T>G , CM000676.1:g.31863357T>G GRCh37
NC_000014.7:g.30933108T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.673A>C MANE Select ENSP00000437968.2:p.Lys225Gln
ENST00000543095.6:c.673A>C ENSP00000437968.2:p.Lys225Gln
ENST00000549185.5:c.*769A>C ENSP00000446654.1:n.*769A>C
NM_015473.3:c.673A>C NP_056288.2:p.Lys225Gln
NM_015473.4:c.673A>C MANE Select NP_056288.2:p.Lys225Gln
Search 100 bp 5'
Search 100 bp 3'