Canonical Allele Identifier: CA441360978
Gene: PABPC4L HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.135121752A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200597A>G , CM000666.2:g.134200597A>G GRCh38
NC_000004.11:g.135121752A>G , CM000666.1:g.135121752A>G GRCh37
NC_000004.10:g.135341202A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.423T>C MANE Select ENSP00000463233.1:p.Phe141=
ENST00000421491.3:c.423T>C ENSP00000463233.1:p.Phe141=
NM_001114734.1:c.597T>C NP_001108206.2:p.Phe199=
NM_001114734.2:c.423T>C MANE Select NP_001108206.3:p.Phe141=
NM_001363585.1:c.423T>C NP_001350514.1:p.Phe141=
XR_001741133.1:n.962T>C
XR_001741134.1:n.962T>C
XR_001741135.1:n.962T>C
XR_001741136.1:n.962T>C
XR_001741137.1:n.962T>C
XR_001741138.1:n.962T>C
XR_001741139.1:n.957T>C