Canonical Allele Identifier: CA804277727
Gene: TIFAB HGNC NCBI
DCANP1 HGNC NCBI

Linked Data

dbSNP Id: rs1193935783
gnomAD v3: 5-135445342-G-A
gnomAD v4: 5-135445342-G-A
MyVariant Identifiers: chr5:g.134781032G>A (hg19) chr5:g.135445342G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135445342G>A , CM000667.2:g.135445342G>A GRCh38
NC_000005.9:g.134781032G>A , CM000667.1:g.134781032G>A GRCh37
NC_000005.8:g.134808931G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000537858.2:c.*4112C>T (TIFAB) MANE Select ENSP00000440509.1:n.*4112C>T
ENST00000503143.3:c.*1032C>T (DCANP1) MANE Select ENSP00000421871.1:n.*1032C>T
ENST00000537858.1:c.*4112C>T (TIFAB) ENSP00000440509.1:n.*4112C>T
NM_130848.2:c.*1032C>T (DCANP1) NP_570900.1:n.*1032C>T
NM_001099221.2:c.*4112C>T (TIFAB) MANE Select NP_001092691.1:n.*4112C>T
NM_130848.3:c.*1032C>T (DCANP1) MANE Select NP_570900.1:n.*1032C>T
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