Canonical Allele Identifier: CA485849763
Gene: HEATR5A HGNC NCBI

Linked Data

dbSNP Id: rs1233437054
gnomAD v4: 14-31394146-G-A
MyVariant Identifiers: chr14:g.31863352G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394146G>A , CM000676.2:g.31394146G>A GRCh38
NC_000014.8:g.31863352G>A , CM000676.1:g.31863352G>A GRCh37
NC_000014.7:g.30933103G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.678C>T MANE Select ENSP00000437968.2:p.Ser226=
ENST00000543095.6:c.678C>T ENSP00000437968.2:p.Ser226=
ENST00000549185.5:c.*774C>T ENSP00000446654.1:n.*774C>T
NM_015473.3:c.678C>T NP_056288.2:p.Ser226=
NM_015473.4:c.678C>T MANE Select NP_056288.2:p.Ser226=
Search 100 bp 5'
Search 100 bp 3'