Canonical Allele Identifier: CA3081092
Gene: PABPC4L HGNC NCBI

Linked Data

ClinVar Variation Id: 3207839
ClinVar RCV Id: RCV004497681
dbSNP Id: rs757838503
ExAC: 4:135122045 C / T
gnomAD v2: 4-135122045-C-T
gnomAD v3: 4-134200890-C-T
gnomAD v4: 4-134200890-C-T
MyVariant Identifiers: chr4:g.135122045C>T (hg19) chr4:g.134200890C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200890C>T , CM000666.2:g.134200890C>T GRCh38
NC_000004.11:g.135122045C>T , CM000666.1:g.135122045C>T GRCh37
NC_000004.10:g.135341495C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.130G>A MANE Select ENSP00000463233.1:p.Asp44Asn
ENST00000421491.3:c.130G>A ENSP00000463233.1:p.Asp44Asn
NM_001114734.1:c.304G>A NP_001108206.2:p.Asp102Asn
NM_001114734.2:c.130G>A MANE Select NP_001108206.3:p.Asp44Asn
NM_001363585.1:c.130G>A NP_001350514.1:p.Asp44Asn
XR_001741133.1:n.669G>A
XR_001741134.1:n.669G>A
XR_001741135.1:n.669G>A
XR_001741136.1:n.669G>A
XR_001741137.1:n.669G>A
XR_001741138.1:n.669G>A
XR_001741139.1:n.664G>A
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