Canonical Allele Identifier: CA358374413
Gene: PABPC4L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200302G>A , CM000666.2:g.134200302G>A GRCh38
NC_000004.11:g.135121457G>A , CM000666.1:g.135121457G>A GRCh37
NC_000004.10:g.135340907G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.718C>T MANE Select ENSP00000463233.1:p.His240Tyr
ENST00000421491.3:c.718C>T ENSP00000463233.1:p.His240Tyr
NM_001114734.1:c.892C>T NP_001108206.2:p.His298Tyr
NM_001114734.2:c.718C>T MANE Select NP_001108206.3:p.His240Tyr
NM_001363585.1:c.718C>T NP_001350514.1:p.His240Tyr
XR_001741133.1:n.1257C>T
XR_001741134.1:n.1257C>T
XR_001741135.1:n.1257C>T
XR_001741136.1:n.1257C>T
XR_001741137.1:n.1257C>T
XR_001741138.1:n.1257C>T
XR_001741139.1:n.1252C>T