Canonical Allele Identifier: CA441361002
Gene: PABPC4L HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.135121797G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200642G>A , CM000666.2:g.134200642G>A GRCh38
NC_000004.11:g.135121797G>A , CM000666.1:g.135121797G>A GRCh37
NC_000004.10:g.135341247G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.378C>T MANE Select ENSP00000463233.1:p.Ser126=
ENST00000421491.3:c.378C>T ENSP00000463233.1:p.Ser126=
NM_001114734.1:c.552C>T NP_001108206.2:p.Ser184=
NM_001114734.2:c.378C>T MANE Select NP_001108206.3:p.Ser126=
NM_001363585.1:c.378C>T NP_001350514.1:p.Ser126=
XR_001741133.1:n.917C>T
XR_001741134.1:n.917C>T
XR_001741135.1:n.917C>T
XR_001741136.1:n.917C>T
XR_001741137.1:n.917C>T
XR_001741138.1:n.917C>T
XR_001741139.1:n.912C>T