Canonical Allele Identifier: CA3081045
Gene: PABPC4L HGNC NCBI

Linked Data

dbSNP Id: rs761884078
ExAC: 4:135121501 G / T
gnomAD v2: 4-135121501-G-T
gnomAD v4: 4-134200346-G-T
MyVariant Identifiers: chr4:g.135121501G>T (hg19) chr4:g.134200346G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200346G>T , CM000666.2:g.134200346G>T GRCh38
NC_000004.11:g.135121501G>T , CM000666.1:g.135121501G>T GRCh37
NC_000004.10:g.135340951G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.674C>A MANE Select ENSP00000463233.1:p.Ser225Tyr
ENST00000421491.3:c.674C>A ENSP00000463233.1:p.Ser225Tyr
NM_001114734.1:c.848C>A NP_001108206.2:p.Ser283Tyr
NM_001114734.2:c.674C>A MANE Select NP_001108206.3:p.Ser225Tyr
NM_001363585.1:c.674C>A NP_001350514.1:p.Ser225Tyr
XR_001741133.1:n.1213C>A
XR_001741134.1:n.1213C>A
XR_001741135.1:n.1213C>A
XR_001741136.1:n.1213C>A
XR_001741137.1:n.1213C>A
XR_001741138.1:n.1213C>A
XR_001741139.1:n.1208C>A
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