Canonical Allele Identifier: CA358374545
Gene: PABPC4L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200360C>G , CM000666.2:g.134200360C>G GRCh38
NC_000004.11:g.135121515C>G , CM000666.1:g.135121515C>G GRCh37
NC_000004.10:g.135340965C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.660G>C MANE Select ENSP00000463233.1:p.Lys220Asn
ENST00000421491.3:c.660G>C ENSP00000463233.1:p.Lys220Asn
NM_001114734.1:c.834G>C NP_001108206.2:p.Lys278Asn
NM_001114734.2:c.660G>C MANE Select NP_001108206.3:p.Lys220Asn
NM_001363585.1:c.660G>C NP_001350514.1:p.Lys220Asn
XR_001741133.1:n.1199G>C
XR_001741134.1:n.1199G>C
XR_001741135.1:n.1199G>C
XR_001741136.1:n.1199G>C
XR_001741137.1:n.1199G>C
XR_001741138.1:n.1199G>C
XR_001741139.1:n.1194G>C