Canonical Allele Identifier: CA358375149
Gene: PABPC4L HGNC NCBI

Linked Data

dbSNP Id: rs1729830985
gnomAD v4: 4-134200622-T-G
MyVariant Identifiers: chr4:g.135121777T>G (hg19) chr4:g.134200622T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200622T>G , CM000666.2:g.134200622T>G GRCh38
NC_000004.11:g.135121777T>G , CM000666.1:g.135121777T>G GRCh37
NC_000004.10:g.135341227T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.398A>C MANE Select ENSP00000463233.1:p.Asp133Ala
ENST00000421491.3:c.398A>C ENSP00000463233.1:p.Asp133Ala
NM_001114734.1:c.572A>C NP_001108206.2:p.Asp191Ala
NM_001114734.2:c.398A>C MANE Select NP_001108206.3:p.Asp133Ala
NM_001363585.1:c.398A>C NP_001350514.1:p.Asp133Ala
XR_001741133.1:n.937A>C
XR_001741134.1:n.937A>C
XR_001741135.1:n.937A>C
XR_001741136.1:n.937A>C
XR_001741137.1:n.937A>C
XR_001741138.1:n.937A>C
XR_001741139.1:n.932A>C
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