Canonical Allele Identifier: CA361020705
Gene: TIFAB HGNC NCBI
DCANP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.134782451G>T (hg19) chr5:g.135446761G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135446761G>T , CM000667.2:g.135446761G>T GRCh38
NC_000005.9:g.134782451G>T , CM000667.1:g.134782451G>T GRCh37
NC_000005.8:g.134810350G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000537858.2:c.*2693C>A (TIFAB) MANE Select ENSP00000440509.1:n.*2693C>A
ENST00000503143.3:c.348C>A (DCANP1) MANE Select ENSP00000421871.1:p.Ser116Arg
ENST00000537858.1:c.*2693C>A (TIFAB) ENSP00000440509.1:n.*2693C>A
NM_130848.2:c.348C>A (DCANP1) NP_570900.1:p.Ser116Arg
NM_001099221.2:c.*2693C>A (TIFAB) MANE Select NP_001092691.1:n.*2693C>A
NM_130848.3:c.348C>A (DCANP1) MANE Select NP_570900.1:p.Ser116Arg
Search 100 bp 5'
Search 100 bp 3'