Canonical Allele Identifier: CA106325859

Gene: PABPC4L

Linked Data

• dbSNP Id: rs372292479
• gnomAD v4: 4-134200877-C-T
• MyVariant Identifiers: chr4:g.135122032C>T (hg19) ; chr4:g.134200877C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.134200877C>T , CM000666.2:g.134200877C>T	GRCh38
NC_000004.11:g.135122032C>T , CM000666.1:g.135122032C>T	GRCh37
NC_000004.10:g.135341482C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421491.4:c.143G>A MANE Select	ENSP00000463233.1:p.Arg48His
ENST00000421491.3:c.143G>A	ENSP00000463233.1:p.Arg48His
NM_001114734.1:c.317G>A	NP_001108206.2:p.Arg106His
NM_001114734.2:c.143G>A MANE Select	NP_001108206.3:p.Arg48His
NM_001363585.1:c.143G>A	NP_001350514.1:p.Arg48His
XR_001741133.1:n.682G>A
XR_001741134.1:n.682G>A
XR_001741135.1:n.682G>A
XR_001741136.1:n.682G>A
XR_001741137.1:n.682G>A
XR_001741138.1:n.682G>A
XR_001741139.1:n.677G>A