Canonical Allele Identifier: CA358375645
Gene: PABPC4L HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.135121995C>G (hg19) chr4:g.134200840C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200840C>G , CM000666.2:g.134200840C>G GRCh38
NC_000004.11:g.135121995C>G , CM000666.1:g.135121995C>G GRCh37
NC_000004.10:g.135341445C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.180G>C MANE Select ENSP00000463233.1:p.Gln60His
ENST00000421491.3:c.180G>C ENSP00000463233.1:p.Gln60His
NM_001114734.1:c.354G>C NP_001108206.2:p.Gln118His
NM_001114734.2:c.180G>C MANE Select NP_001108206.3:p.Gln60His
NM_001363585.1:c.180G>C NP_001350514.1:p.Gln60His
XR_001741133.1:n.719G>C
XR_001741134.1:n.719G>C
XR_001741135.1:n.719G>C
XR_001741136.1:n.719G>C
XR_001741137.1:n.719G>C
XR_001741138.1:n.719G>C
XR_001741139.1:n.714G>C
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