Canonical Allele Identifier: CA358375762
Gene: PABPC4L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200894G>C , CM000666.2:g.134200894G>C GRCh38
NC_000004.11:g.135122049G>C , CM000666.1:g.135122049G>C GRCh37
NC_000004.10:g.135341499G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.126C>G MANE Select ENSP00000463233.1:p.Cys42Trp
ENST00000421491.3:c.126C>G ENSP00000463233.1:p.Cys42Trp
NM_001114734.1:c.300C>G NP_001108206.2:p.Cys100Trp
NM_001114734.2:c.126C>G MANE Select NP_001108206.3:p.Cys42Trp
NM_001363585.1:c.126C>G NP_001350514.1:p.Cys42Trp
XR_001741133.1:n.665C>G
XR_001741134.1:n.665C>G
XR_001741135.1:n.665C>G
XR_001741136.1:n.665C>G
XR_001741137.1:n.665C>G
XR_001741138.1:n.665C>G
XR_001741139.1:n.660C>G