Canonical Allele Identifier: CA258630401
Gene: HEATR5A HGNC NCBI

Linked Data

dbSNP Id: rs757732055
gnomAD v4: 14-31394023-A-C
MyVariant Identifiers: chr14:g.31863229A>C (hg19) chr14:g.31394023A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394023A>C , CM000676.2:g.31394023A>C GRCh38
NC_000014.8:g.31863229A>C , CM000676.1:g.31863229A>C GRCh37
NC_000014.7:g.30932980A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.772+29T>G MANE Select ENSP00000437968.2:n.772+29T>G
ENST00000543095.6:c.772+29T>G ENSP00000437968.2:n.772+29T>G
ENST00000549185.5:c.*868+29T>G ENSP00000446654.1:n.*868+29T>G
NM_015473.3:c.772+29T>G NP_056288.2:n.772+29T>G
NM_015473.4:c.772+29T>G MANE Select NP_056288.2:n.772+29T>G
Search 100 bp 5'
Search 100 bp 3'