Canonical Allele Identifier: CA804277717
Gene: TIFAB HGNC NCBI
DCANP1 HGNC NCBI

Linked Data

dbSNP Id: rs1409382782
gnomAD v4: 5-135445335-G-T
MyVariant Identifiers: chr5:g.134781025G>T (hg19) chr5:g.135445335G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135445335G>T , CM000667.2:g.135445335G>T GRCh38
NC_000005.9:g.134781025G>T , CM000667.1:g.134781025G>T GRCh37
NC_000005.8:g.134808924G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000537858.2:c.*4119C>A (TIFAB) MANE Select ENSP00000440509.1:n.*4119C>A
ENST00000503143.3:c.*1039C>A (DCANP1) MANE Select ENSP00000421871.1:n.*1039C>A
ENST00000537858.1:c.*4119C>A (TIFAB) ENSP00000440509.1:n.*4119C>A
NM_130848.2:c.*1039C>A (DCANP1) NP_570900.1:n.*1039C>A
NM_001099221.2:c.*4119C>A (TIFAB) MANE Select NP_001092691.1:n.*4119C>A
NM_130848.3:c.*1039C>A (DCANP1) MANE Select NP_570900.1:n.*1039C>A
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