Canonical Allele Identifier: CA562860327

Gene: TIFAB DCANP1

Linked Data

• dbSNP Id: rs1403327957
• gnomAD v2: 5-134781004-C-T
• gnomAD v3: 5-135445314-C-T
• gnomAD v4: 5-135445314-C-T
• MyVariant Identifiers: chr5:g.134781004C>T (hg19) ; chr5:g.135445314C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135445314C>T , CM000667.2:g.135445314C>T	GRCh38
NC_000005.9:g.134781004C>T , CM000667.1:g.134781004C>T	GRCh37
NC_000005.8:g.134808903C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000537858.2:c.*4140G>A (TIFAB) MANE Select	ENSP00000440509.1:n.*4140G>A
ENST00000503143.3:c.*1060G>A (DCANP1) MANE Select	ENSP00000421871.1:n.*1060G>A
ENST00000537858.1:c.*4140G>A (TIFAB)	ENSP00000440509.1:n.*4140G>A
NM_130848.2:c.*1060G>A (DCANP1)	NP_570900.1:n.*1060G>A
NM_001099221.2:c.*4140G>A (TIFAB) MANE Select	NP_001092691.1:n.*4140G>A
NM_130848.3:c.*1060G>A (DCANP1) MANE Select	NP_570900.1:n.*1060G>A