Canonical Allele Identifier: CA106325727
Gene: PABPC4L HGNC NCBI

Linked Data

dbSNP Id: rs1010215170
gnomAD v4: 4-134200301-T-C
MyVariant Identifiers: chr4:g.135121456T>C (hg19) chr4:g.134200301T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200301T>C , CM000666.2:g.134200301T>C GRCh38
NC_000004.11:g.135121456T>C , CM000666.1:g.135121456T>C GRCh37
NC_000004.10:g.135340906T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.719A>G MANE Select ENSP00000463233.1:p.His240Arg
ENST00000421491.3:c.719A>G ENSP00000463233.1:p.His240Arg
NM_001114734.1:c.893A>G NP_001108206.2:p.His298Arg
NM_001114734.2:c.719A>G MANE Select NP_001108206.3:p.His240Arg
NM_001363585.1:c.719A>G NP_001350514.1:p.His240Arg
XR_001741133.1:n.1258A>G
XR_001741134.1:n.1258A>G
XR_001741135.1:n.1258A>G
XR_001741136.1:n.1258A>G
XR_001741137.1:n.1258A>G
XR_001741138.1:n.1258A>G
XR_001741139.1:n.1253A>G
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