Canonical Allele Identifier: CA358375041
Gene: PABPC4L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200577C>A , CM000666.2:g.134200577C>A GRCh38
NC_000004.11:g.135121732C>A , CM000666.1:g.135121732C>A GRCh37
NC_000004.10:g.135341182C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.443G>T MANE Select ENSP00000463233.1:p.Ser148Ile
ENST00000421491.3:c.443G>T ENSP00000463233.1:p.Ser148Ile
NM_001114734.1:c.617G>T NP_001108206.2:p.Ser206Ile
NM_001114734.2:c.443G>T MANE Select NP_001108206.3:p.Ser148Ile
NM_001363585.1:c.443G>T NP_001350514.1:p.Ser148Ile
XR_001741133.1:n.982G>T
XR_001741134.1:n.982G>T
XR_001741135.1:n.982G>T
XR_001741136.1:n.982G>T
XR_001741137.1:n.982G>T
XR_001741138.1:n.982G>T
XR_001741139.1:n.977G>T