Canonical Allele Identifier: CA389386900
Gene: HEATR5A HGNC NCBI

Linked Data

dbSNP Id: rs1010718073
MyVariant Identifiers: chr14:g.31863362C>A (hg19) chr14:g.31394156C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394156C>A , CM000676.2:g.31394156C>A GRCh38
NC_000014.8:g.31863362C>A , CM000676.1:g.31863362C>A GRCh37
NC_000014.7:g.30933113C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.668G>T MANE Select ENSP00000437968.2:p.Cys223Phe
ENST00000543095.6:c.668G>T ENSP00000437968.2:p.Cys223Phe
ENST00000549185.5:c.*764G>T ENSP00000446654.1:n.*764G>T
NM_015473.3:c.668G>T NP_056288.2:p.Cys223Phe
NM_015473.4:c.668G>T MANE Select NP_056288.2:p.Cys223Phe
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