Canonical Allele Identifier: CA2624480660
Gene: HEATR5A HGNC NCBI

Linked Data

gnomAD v4: 14-31393928-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31393928G>T , CM000676.2:g.31393928G>T GRCh38
NC_000014.8:g.31863134G>T , CM000676.1:g.31863134G>T GRCh37
NC_000014.7:g.30932885G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000543095.7:c.772+124C>A MANE Select ENSP00000437968.2:n.772+124C>A
ENST00000543095.6:c.772+124C>A ENSP00000437968.2:n.772+124C>A
ENST00000549185.5:c.*868+124C>A ENSP00000446654.1:n.*868+124C>A
NM_015473.3:c.772+124C>A NP_056288.2:n.772+124C>A
NM_015473.4:c.772+124C>A MANE Select NP_056288.2:n.772+124C>A
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