Canonical Allele Identifier: CA358375721

Gene: PABPC4L

Linked Data

• dbSNP Id: rs1729845628
• gnomAD v4: 4-134200875-G-A
• MyVariant Identifiers: chr4:g.135122030G>A (hg19) ; chr4:g.134200875G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.134200875G>A , CM000666.2:g.134200875G>A	GRCh38
NC_000004.11:g.135122030G>A , CM000666.1:g.135122030G>A	GRCh37
NC_000004.10:g.135341480G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421491.4:c.145C>T MANE Select	ENSP00000463233.1:p.Arg49Cys
ENST00000421491.3:c.145C>T	ENSP00000463233.1:p.Arg49Cys
NM_001114734.1:c.319C>T	NP_001108206.2:p.Arg107Cys
NM_001114734.2:c.145C>T MANE Select	NP_001108206.3:p.Arg49Cys
NM_001363585.1:c.145C>T	NP_001350514.1:p.Arg49Cys
XR_001741133.1:n.684C>T
XR_001741134.1:n.684C>T
XR_001741135.1:n.684C>T
XR_001741136.1:n.684C>T
XR_001741137.1:n.684C>T
XR_001741138.1:n.684C>T
XR_001741139.1:n.679C>T