Canonical Allele Identifier: CA106325767
Gene: PABPC4L HGNC NCBI

Linked Data

dbSNP Id: rs1003951040
gnomAD v2: 4-135121664-T-G
gnomAD v3: 4-134200509-T-G
gnomAD v4: 4-134200509-T-G
MyVariant Identifiers: chr4:g.135121664T>G (hg19) chr4:g.134200509T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200509T>G , CM000666.2:g.134200509T>G GRCh38
NC_000004.11:g.135121664T>G , CM000666.1:g.135121664T>G GRCh37
NC_000004.10:g.135341114T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.511A>C MANE Select ENSP00000463233.1:p.Arg171=
ENST00000421491.3:c.511A>C ENSP00000463233.1:p.Arg171=
NM_001114734.1:c.685A>C NP_001108206.2:p.Arg229=
NM_001114734.2:c.511A>C MANE Select NP_001108206.3:p.Arg171=
NM_001363585.1:c.511A>C NP_001350514.1:p.Arg171=
XR_001741133.1:n.1050A>C
XR_001741134.1:n.1050A>C
XR_001741135.1:n.1050A>C
XR_001741136.1:n.1050A>C
XR_001741137.1:n.1050A>C
XR_001741138.1:n.1050A>C
XR_001741139.1:n.1045A>C
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