Canonical Allele Identifier: CA485849697
Gene: HEATR5A HGNC NCBI

Linked Data

gnomAD v4: 14-31394059-T-C
MyVariant Identifiers: chr14:g.31863265T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394059T>C , CM000676.2:g.31394059T>C GRCh38
NC_000014.8:g.31863265T>C , CM000676.1:g.31863265T>C GRCh37
NC_000014.7:g.30933016T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.765A>G MANE Select ENSP00000437968.2:p.Pro255=
ENST00000543095.6:c.765A>G ENSP00000437968.2:p.Pro255=
ENST00000549185.5:c.*861A>G ENSP00000446654.1:n.*861A>G
NM_015473.3:c.765A>G NP_056288.2:p.Pro255=
NM_015473.4:c.765A>G MANE Select NP_056288.2:p.Pro255=
Search 100 bp 5'
Search 100 bp 3'