Canonical Allele Identifier: CA3081084
Gene: PABPC4L HGNC NCBI

Linked Data

dbSNP Id: rs370929196
ExAC: 4:135121967 T / G
gnomAD v2: 4-135121967-T-G
gnomAD v4: 4-134200812-T-G
MyVariant Identifiers: chr4:g.135121967T>G (hg19) chr4:g.134200812T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200812T>G , CM000666.2:g.134200812T>G GRCh38
NC_000004.11:g.135121967T>G , CM000666.1:g.135121967T>G GRCh37
NC_000004.10:g.135341417T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.208A>C MANE Select ENSP00000463233.1:p.Thr70Pro
ENST00000421491.3:c.208A>C ENSP00000463233.1:p.Thr70Pro
NM_001114734.1:c.382A>C NP_001108206.2:p.Thr128Pro
NM_001114734.2:c.208A>C MANE Select NP_001108206.3:p.Thr70Pro
NM_001363585.1:c.208A>C NP_001350514.1:p.Thr70Pro
XR_001741133.1:n.747A>C
XR_001741134.1:n.747A>C
XR_001741135.1:n.747A>C
XR_001741136.1:n.747A>C
XR_001741137.1:n.747A>C
XR_001741138.1:n.747A>C
XR_001741139.1:n.742A>C
Search 100 bp 5'
Search 100 bp 3'