Canonical Allele Identifier: CA358374473
Gene: PABPC4L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200328C>T , CM000666.2:g.134200328C>T GRCh38
NC_000004.11:g.135121483C>T , CM000666.1:g.135121483C>T GRCh37
NC_000004.10:g.135340933C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.692G>A MANE Select ENSP00000463233.1:p.Gly231Asp
ENST00000421491.3:c.692G>A ENSP00000463233.1:p.Gly231Asp
NM_001114734.1:c.866G>A NP_001108206.2:p.Gly289Asp
NM_001114734.2:c.692G>A MANE Select NP_001108206.3:p.Gly231Asp
NM_001363585.1:c.692G>A NP_001350514.1:p.Gly231Asp
XR_001741133.1:n.1231G>A
XR_001741134.1:n.1231G>A
XR_001741135.1:n.1231G>A
XR_001741136.1:n.1231G>A
XR_001741137.1:n.1231G>A
XR_001741138.1:n.1231G>A
XR_001741139.1:n.1226G>A