Canonical Allele Identifier: CA361020709
Gene: TIFAB HGNC NCBI
DCANP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.134782453T>A (hg19) chr5:g.135446763T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135446763T>A , CM000667.2:g.135446763T>A GRCh38
NC_000005.9:g.134782453T>A , CM000667.1:g.134782453T>A GRCh37
NC_000005.8:g.134810352T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000537858.2:c.*2691A>T (TIFAB) MANE Select ENSP00000440509.1:n.*2691A>T
ENST00000503143.3:c.346A>T (DCANP1) MANE Select ENSP00000421871.1:p.Ser116Cys
ENST00000537858.1:c.*2691A>T (TIFAB) ENSP00000440509.1:n.*2691A>T
NM_130848.2:c.346A>T (DCANP1) NP_570900.1:p.Ser116Cys
NM_001099221.2:c.*2691A>T (TIFAB) MANE Select NP_001092691.1:n.*2691A>T
NM_130848.3:c.346A>T (DCANP1) MANE Select NP_570900.1:p.Ser116Cys
Search 100 bp 5'
Search 100 bp 3'