Canonical Allele Identifier: CA389386106
Gene: HEATR5A HGNC NCBI

Linked Data

dbSNP Id: rs2030556952
gnomAD v4: 14-31394079-C-G
MyVariant Identifiers: chr14:g.31863285C>G (hg19) chr14:g.31394079C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394079C>G , CM000676.2:g.31394079C>G GRCh38
NC_000014.8:g.31863285C>G , CM000676.1:g.31863285C>G GRCh37
NC_000014.7:g.30933036C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.745G>C MANE Select ENSP00000437968.2:p.Ala249Pro
ENST00000543095.6:c.745G>C ENSP00000437968.2:p.Ala249Pro
ENST00000549185.5:c.*841G>C ENSP00000446654.1:n.*841G>C
NM_015473.3:c.745G>C NP_056288.2:p.Ala249Pro
NM_015473.4:c.745G>C MANE Select NP_056288.2:p.Ala249Pro
Search 100 bp 5'
Search 100 bp 3'