Canonical Allele Identifier: CA358375733
Gene: PABPC4L HGNC NCBI

Linked Data

dbSNP Id: rs1578886235

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200883A>G , CM000666.2:g.134200883A>G GRCh38
NC_000004.11:g.135122038A>G , CM000666.1:g.135122038A>G GRCh37
NC_000004.10:g.135341488A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.137T>C MANE Select ENSP00000463233.1:p.Val46Ala
ENST00000421491.3:c.137T>C ENSP00000463233.1:p.Val46Ala
NM_001114734.1:c.311T>C NP_001108206.2:p.Val104Ala
NM_001114734.2:c.137T>C MANE Select NP_001108206.3:p.Val46Ala
NM_001363585.1:c.137T>C NP_001350514.1:p.Val46Ala
XR_001741133.1:n.676T>C
XR_001741134.1:n.676T>C
XR_001741135.1:n.676T>C
XR_001741136.1:n.676T>C
XR_001741137.1:n.676T>C
XR_001741138.1:n.676T>C
XR_001741139.1:n.671T>C