Canonical Allele Identifier: CA485849701
Gene: HEATR5A HGNC NCBI

Linked Data

dbSNP Id: rs1380070352
gnomAD v2: 14-31863271-T-C
gnomAD v3: 14-31394065-T-C
gnomAD v4: 14-31394065-T-C
MyVariant Identifiers: chr14:g.31863271T>C (hg19) chr14:g.31394065T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394065T>C , CM000676.2:g.31394065T>C GRCh38
NC_000014.8:g.31863271T>C , CM000676.1:g.31863271T>C GRCh37
NC_000014.7:g.30933022T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.759A>G MANE Select ENSP00000437968.2:p.Lys253=
ENST00000543095.6:c.759A>G ENSP00000437968.2:p.Lys253=
ENST00000549185.5:c.*855A>G ENSP00000446654.1:n.*855A>G
NM_015473.3:c.759A>G NP_056288.2:p.Lys253=
NM_015473.4:c.759A>G MANE Select NP_056288.2:p.Lys253=
Search 100 bp 5'
Search 100 bp 3'