Canonical Allele Identifier: CA2675371055
Gene: TIFAB HGNC NCBI
DCANP1 HGNC NCBI

Linked Data

gnomAD v4: 5-135445333-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135445333A>G , CM000667.2:g.135445333A>G GRCh38
NC_000005.9:g.134781023A>G , CM000667.1:g.134781023A>G GRCh37
NC_000005.8:g.134808922A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000537858.2:c.*4121T>C (TIFAB) MANE Select ENSP00000440509.1:n.*4121T>C
ENST00000503143.3:c.*1041T>C (DCANP1) MANE Select ENSP00000421871.1:n.*1041T>C
ENST00000537858.1:c.*4121T>C (TIFAB) ENSP00000440509.1:n.*4121T>C
NM_130848.2:c.*1041T>C (DCANP1) NP_570900.1:n.*1041T>C
NM_001099221.2:c.*4121T>C (TIFAB) MANE Select NP_001092691.1:n.*4121T>C
NM_130848.3:c.*1041T>C (DCANP1) MANE Select NP_570900.1:n.*1041T>C
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