Canonical Allele Identifier: CA441362119
Gene: PABPC4L HGNC NCBI

Linked Data

dbSNP Id: rs1729845192
gnomAD v3: 4-134200867-C-T
gnomAD v4: 4-134200867-C-T
MyVariant Identifiers: chr4:g.135122022C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200867C>T , CM000666.2:g.134200867C>T GRCh38
NC_000004.11:g.135122022C>T , CM000666.1:g.135122022C>T GRCh37
NC_000004.10:g.135341472C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.153G>A MANE Select ENSP00000463233.1:p.Leu51=
ENST00000421491.3:c.153G>A ENSP00000463233.1:p.Leu51=
NM_001114734.1:c.327G>A NP_001108206.2:p.Leu109=
NM_001114734.2:c.153G>A MANE Select NP_001108206.3:p.Leu51=
NM_001363585.1:c.153G>A NP_001350514.1:p.Leu51=
XR_001741133.1:n.692G>A
XR_001741134.1:n.692G>A
XR_001741135.1:n.692G>A
XR_001741136.1:n.692G>A
XR_001741137.1:n.692G>A
XR_001741138.1:n.692G>A
XR_001741139.1:n.687G>A
Search 100 bp 5'
Search 100 bp 3'