Canonical Allele Identifier: CA358374481
Gene: PABPC4L HGNC NCBI

Linked Data

gnomAD v4: 4-134200331-T-C
MyVariant Identifiers: chr4:g.135121486T>C (hg19) chr4:g.134200331T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200331T>C , CM000666.2:g.134200331T>C GRCh38
NC_000004.11:g.135121486T>C , CM000666.1:g.135121486T>C GRCh37
NC_000004.10:g.135340936T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.689A>G MANE Select ENSP00000463233.1:p.Lys230Arg
ENST00000421491.3:c.689A>G ENSP00000463233.1:p.Lys230Arg
NM_001114734.1:c.863A>G NP_001108206.2:p.Lys288Arg
NM_001114734.2:c.689A>G MANE Select NP_001108206.3:p.Lys230Arg
NM_001363585.1:c.689A>G NP_001350514.1:p.Lys230Arg
XR_001741133.1:n.1228A>G
XR_001741134.1:n.1228A>G
XR_001741135.1:n.1228A>G
XR_001741136.1:n.1228A>G
XR_001741137.1:n.1228A>G
XR_001741138.1:n.1228A>G
XR_001741139.1:n.1223A>G
Search 100 bp 5'
Search 100 bp 3'