Canonical Allele Identifier: CA485849712
Gene: HEATR5A HGNC NCBI

Linked Data

dbSNP Id: rs1408966183
gnomAD v3: 14-31394077-A-G
gnomAD v4: 14-31394077-A-G
MyVariant Identifiers: chr14:g.31863283A>G (hg19) chr14:g.31394077A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394077A>G , CM000676.2:g.31394077A>G GRCh38
NC_000014.8:g.31863283A>G , CM000676.1:g.31863283A>G GRCh37
NC_000014.7:g.30933034A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.747T>C MANE Select ENSP00000437968.2:p.Ala249=
ENST00000543095.6:c.747T>C ENSP00000437968.2:p.Ala249=
ENST00000549185.5:c.*843T>C ENSP00000446654.1:n.*843T>C
NM_015473.3:c.747T>C NP_056288.2:p.Ala249=
NM_015473.4:c.747T>C MANE Select NP_056288.2:p.Ala249=
Search 100 bp 5'
Search 100 bp 3'