Canonical Allele Identifier: CA3081089
Gene: PABPC4L HGNC NCBI

Linked Data

dbSNP Id: rs761793554
ExAC: 4:135122029 C / A
gnomAD v2: 4-135122029-C-A
gnomAD v4: 4-134200874-C-A
MyVariant Identifiers: chr4:g.135122029C>A (hg19) chr4:g.134200874C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200874C>A , CM000666.2:g.134200874C>A GRCh38
NC_000004.11:g.135122029C>A , CM000666.1:g.135122029C>A GRCh37
NC_000004.10:g.135341479C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.146G>T MANE Select ENSP00000463233.1:p.Arg49Leu
ENST00000421491.3:c.146G>T ENSP00000463233.1:p.Arg49Leu
NM_001114734.1:c.320G>T NP_001108206.2:p.Arg107Leu
NM_001114734.2:c.146G>T MANE Select NP_001108206.3:p.Arg49Leu
NM_001363585.1:c.146G>T NP_001350514.1:p.Arg49Leu
XR_001741133.1:n.685G>T
XR_001741134.1:n.685G>T
XR_001741135.1:n.685G>T
XR_001741136.1:n.685G>T
XR_001741137.1:n.685G>T
XR_001741138.1:n.685G>T
XR_001741139.1:n.680G>T
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