Canonical Allele Identifier: CA389386109
Gene: HEATR5A HGNC NCBI

Linked Data

dbSNP Id: rs2030556952
gnomAD v3: 14-31394079-C-T
gnomAD v4: 14-31394079-C-T
MyVariant Identifiers: chr14:g.31863285C>T (hg19) chr14:g.31394079C>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.745G>A MANE Select ENSP00000437968.2:p.Ala249Thr
ENST00000543095.6:c.745G>A ENSP00000437968.2:p.Ala249Thr
ENST00000549185.5:c.*841G>A ENSP00000446654.1:n.*841G>A
NM_015473.3:c.745G>A NP_056288.2:p.Ala249Thr
NM_015473.4:c.745G>A MANE Select NP_056288.2:p.Ala249Thr
Search 100 bp 5'
Search 100 bp 3'