Canonical Allele Identifier: CA1081845678
Gene: TIFAB HGNC NCBI
DCANP1 HGNC NCBI

Linked Data

dbSNP Id: rs1769235020
gnomAD v3: 5-135445246-T-C
gnomAD v4: 5-135445246-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135445246T>C , CM000667.2:g.135445246T>C GRCh38
NC_000005.9:g.134780936T>C , CM000667.1:g.134780936T>C GRCh37
NC_000005.8:g.134808835T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000537858.2:c.*4208A>G (TIFAB) MANE Select ENSP00000440509.1:n.*4208A>G
ENST00000503143.3:c.*1128A>G (DCANP1) MANE Select ENSP00000421871.1:n.*1128A>G
ENST00000537858.1:c.*4208A>G (TIFAB) ENSP00000440509.1:n.*4208A>G
NM_130848.2:c.*1128A>G (DCANP1) NP_570900.1:n.*1128A>G
NM_001099221.2:c.*4208A>G (TIFAB) MANE Select NP_001092691.1:n.*4208A>G
NM_130848.3:c.*1128A>G (DCANP1) MANE Select NP_570900.1:n.*1128A>G
Search 100 bp 5'
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