Canonical Allele Identifier: CA258630338
Gene: HEATR5A HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.31393927T>C
GRCh37 chr14:g.31863133T>C
gnomAD v2:
14:31863133 T / C
gnomAD v3:
14:31393927 T / C
gnomAD v4:
chr14-31393927-T-C
Joint Max Group AF 0.99741846 (NFE)
Genomes Max Group AF 0.99364355 (NFE)
Exomes Max Group AF 0.99718691 (NFE)
dbSNP:
10138277
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31393927T>C , CM000676.2:g.31393927T>C GRCh38
NC_000014.8:g.31863133T>C , CM000676.1:g.31863133T>C GRCh37
NC_000014.7:g.30932884T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.772+125A>G MANE Select ENSP00000437968.2:n.772+125A>G
ENST00000543095.6:c.772+125A>G ENSP00000437968.2:n.772+125A>G
ENST00000549185.5:c.*868+125A>G ENSP00000446654.1:n.*868+125A>G
NM_015473.3:c.772+125A>G NP_056288.2:n.772+125A>G
NM_015473.4:c.772+125A>G MANE Select NP_056288.2:n.772+125A>G
Search 100 bp 5'
Search 100 bp 3'