Canonical Allele Identifier: CA3081090
Gene: PABPC4L HGNC NCBI

Linked Data

dbSNP Id: rs765099377
ExAC: 4:135122035 G / A
gnomAD v3: 4-134200880-G-A
gnomAD v4: 4-134200880-G-A
MyVariant Identifiers: chr4:g.135122035G>A (hg19) chr4:g.134200880G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200880G>A , CM000666.2:g.134200880G>A GRCh38
NC_000004.11:g.135122035G>A , CM000666.1:g.135122035G>A GRCh37
NC_000004.10:g.135341485G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.140C>T MANE Select ENSP00000463233.1:p.Thr47Ile
ENST00000421491.3:c.140C>T ENSP00000463233.1:p.Thr47Ile
NM_001114734.1:c.314C>T NP_001108206.2:p.Thr105Ile
NM_001114734.2:c.140C>T MANE Select NP_001108206.3:p.Thr47Ile
NM_001363585.1:c.140C>T NP_001350514.1:p.Thr47Ile
XR_001741133.1:n.679C>T
XR_001741134.1:n.679C>T
XR_001741135.1:n.679C>T
XR_001741136.1:n.679C>T
XR_001741137.1:n.679C>T
XR_001741138.1:n.679C>T
XR_001741139.1:n.674C>T
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