Canonical Allele Identifier: CA3081054
Gene: PABPC4L HGNC NCBI

Linked Data

ClinVar Variation Id: 2309259
ClinVar RCV Id: RCV004161967
dbSNP Id: rs756824527
ExAC: 4:135121570 T / A
gnomAD v2: 4-135121570-T-A
gnomAD v4: 4-134200415-T-A
MyVariant Identifiers: chr4:g.135121570T>A (hg19) chr4:g.134200415T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200415T>A , CM000666.2:g.134200415T>A GRCh38
NC_000004.11:g.135121570T>A , CM000666.1:g.135121570T>A GRCh37
NC_000004.10:g.135341020T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.605A>T MANE Select ENSP00000463233.1:p.Asp202Val
ENST00000421491.3:c.605A>T ENSP00000463233.1:p.Asp202Val
NM_001114734.1:c.779A>T NP_001108206.2:p.Asp260Val
NM_001114734.2:c.605A>T MANE Select NP_001108206.3:p.Asp202Val
NM_001363585.1:c.605A>T NP_001350514.1:p.Asp202Val
XR_001741133.1:n.1144A>T
XR_001741134.1:n.1144A>T
XR_001741135.1:n.1144A>T
XR_001741136.1:n.1144A>T
XR_001741137.1:n.1144A>T
XR_001741138.1:n.1144A>T
XR_001741139.1:n.1139A>T
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