Canonical Allele Identifier: CA361020714
Gene: TIFAB HGNC NCBI
DCANP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.134782455C>A (hg19) chr5:g.135446765C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135446765C>A , CM000667.2:g.135446765C>A GRCh38
NC_000005.9:g.134782455C>A , CM000667.1:g.134782455C>A GRCh37
NC_000005.8:g.134810354C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000537858.2:c.*2689G>T (TIFAB) MANE Select ENSP00000440509.1:n.*2689G>T
ENST00000503143.3:c.344G>T (DCANP1) MANE Select ENSP00000421871.1:p.Ser115Ile
ENST00000537858.1:c.*2689G>T (TIFAB) ENSP00000440509.1:n.*2689G>T
NM_130848.2:c.344G>T (DCANP1) NP_570900.1:p.Ser115Ile
NM_001099221.2:c.*2689G>T (TIFAB) MANE Select NP_001092691.1:n.*2689G>T
NM_130848.3:c.344G>T (DCANP1) MANE Select NP_570900.1:p.Ser115Ile
Search 100 bp 5'
Search 100 bp 3'