Canonical Allele Identifier: CA358375664
Gene: PABPC4L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200848A>C , CM000666.2:g.134200848A>C GRCh38
NC_000004.11:g.135122003A>C , CM000666.1:g.135122003A>C GRCh37
NC_000004.10:g.135341453A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.172T>G MANE Select ENSP00000463233.1:p.Phe58Val
ENST00000421491.3:c.172T>G ENSP00000463233.1:p.Phe58Val
NM_001114734.1:c.346T>G NP_001108206.2:p.Phe116Val
NM_001114734.2:c.172T>G MANE Select NP_001108206.3:p.Phe58Val
NM_001363585.1:c.172T>G NP_001350514.1:p.Phe58Val
XR_001741133.1:n.711T>G
XR_001741134.1:n.711T>G
XR_001741135.1:n.711T>G
XR_001741136.1:n.711T>G
XR_001741137.1:n.711T>G
XR_001741138.1:n.711T>G
XR_001741139.1:n.706T>G