Canonical Allele Identifier: CA7147411
Gene: HEATR5A HGNC NCBI

Linked Data

dbSNP Id: rs770480769
ExAC: 14:31863278 A / G
gnomAD v2: 14-31863278-A-G
gnomAD v3: 14-31394072-A-G
gnomAD v4: 14-31394072-A-G
MyVariant Identifiers: chr14:g.31863278A>G (hg19) chr14:g.31394072A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394072A>G , CM000676.2:g.31394072A>G GRCh38
NC_000014.8:g.31863278A>G , CM000676.1:g.31863278A>G GRCh37
NC_000014.7:g.30933029A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.752T>C MANE Select ENSP00000437968.2:p.Ile251Thr
ENST00000543095.6:c.752T>C ENSP00000437968.2:p.Ile251Thr
ENST00000549185.5:c.*848T>C ENSP00000446654.1:n.*848T>C
NM_015473.3:c.752T>C NP_056288.2:p.Ile251Thr
NM_015473.4:c.752T>C MANE Select NP_056288.2:p.Ile251Thr
Search 100 bp 5'
Search 100 bp 3'