Canonical Allele Identifier: CA961631832
Gene: HEATR5A HGNC NCBI

Linked Data

dbSNP Id: rs2030545400
gnomAD v3: 14-31393801-A-G
gnomAD v4: 14-31393801-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31393801A>G , CM000676.2:g.31393801A>G GRCh38
NC_000014.8:g.31863007A>G , CM000676.1:g.31863007A>G GRCh37
NC_000014.7:g.30932758A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.772+251T>C MANE Select ENSP00000437968.2:n.772+251T>C
ENST00000543095.6:c.772+251T>C ENSP00000437968.2:n.772+251T>C
ENST00000549185.5:c.*868+251T>C ENSP00000446654.1:n.*868+251T>C
NM_015473.3:c.772+251T>C NP_056288.2:n.772+251T>C
NM_015473.4:c.772+251T>C MANE Select NP_056288.2:n.772+251T>C
Search 100 bp 5'
Search 100 bp 3'