Canonical Allele Identifier: CA389386179
Gene: HEATR5A HGNC NCBI

Linked Data

gnomAD v4: 14-31394088-A-C
MyVariant Identifiers: chr14:g.31863294A>C (hg19) chr14:g.31394088A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394088A>C , CM000676.2:g.31394088A>C GRCh38
NC_000014.8:g.31863294A>C , CM000676.1:g.31863294A>C GRCh37
NC_000014.7:g.30933045A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.736T>G MANE Select ENSP00000437968.2:p.Leu246Val
ENST00000543095.6:c.736T>G ENSP00000437968.2:p.Leu246Val
ENST00000549185.5:c.*832T>G ENSP00000446654.1:n.*832T>G
NM_015473.3:c.736T>G NP_056288.2:p.Leu246Val
NM_015473.4:c.736T>G MANE Select NP_056288.2:p.Leu246Val
Search 100 bp 5'
Search 100 bp 3'