Canonical Allele Identifier: CA704960042
Gene: HEATR5A HGNC NCBI

Linked Data

dbSNP Id: rs1228570873
gnomAD v3: 14-31393805-C-T
gnomAD v4: 14-31393805-C-T
MyVariant Identifiers: chr14:g.31863011C>T (hg19) chr14:g.31393805C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31393805C>T , CM000676.2:g.31393805C>T GRCh38
NC_000014.8:g.31863011C>T , CM000676.1:g.31863011C>T GRCh37
NC_000014.7:g.30932762C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.772+247G>A MANE Select ENSP00000437968.2:n.772+247G>A
ENST00000543095.6:c.772+247G>A ENSP00000437968.2:n.772+247G>A
ENST00000549185.5:c.*868+247G>A ENSP00000446654.1:n.*868+247G>A
NM_015473.3:c.772+247G>A NP_056288.2:n.772+247G>A
NM_015473.4:c.772+247G>A MANE Select NP_056288.2:n.772+247G>A
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