Canonical Allele Identifier: CA358375386
Gene: PABPC4L HGNC NCBI

Linked Data

dbSNP Id: rs1312759238
gnomAD v4: 4-134200723-G-C
MyVariant Identifiers: chr4:g.135121878G>C (hg19) chr4:g.134200723G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200723G>C , CM000666.2:g.134200723G>C GRCh38
NC_000004.11:g.135121878G>C , CM000666.1:g.135121878G>C GRCh37
NC_000004.10:g.135341328G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.297C>G MANE Select ENSP00000463233.1:p.Asn99Lys
ENST00000421491.3:c.297C>G ENSP00000463233.1:p.Asn99Lys
NM_001114734.1:c.471C>G NP_001108206.2:p.Asn157Lys
NM_001114734.2:c.297C>G MANE Select NP_001108206.3:p.Asn99Lys
NM_001363585.1:c.297C>G NP_001350514.1:p.Asn99Lys
XR_001741133.1:n.836C>G
XR_001741134.1:n.836C>G
XR_001741135.1:n.836C>G
XR_001741136.1:n.836C>G
XR_001741137.1:n.836C>G
XR_001741138.1:n.836C>G
XR_001741139.1:n.831C>G
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