Canonical Allele Identifier: CA358374550
Gene: PABPC4L HGNC NCBI

Linked Data

gnomAD v4: 4-134200362-T-C
MyVariant Identifiers: chr4:g.135121517T>C (hg19) chr4:g.134200362T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200362T>C , CM000666.2:g.134200362T>C GRCh38
NC_000004.11:g.135121517T>C , CM000666.1:g.135121517T>C GRCh37
NC_000004.10:g.135340967T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.658A>G MANE Select ENSP00000463233.1:p.Lys220Glu
ENST00000421491.3:c.658A>G ENSP00000463233.1:p.Lys220Glu
NM_001114734.1:c.832A>G NP_001108206.2:p.Lys278Glu
NM_001114734.2:c.658A>G MANE Select NP_001108206.3:p.Lys220Glu
NM_001363585.1:c.658A>G NP_001350514.1:p.Lys220Glu
XR_001741133.1:n.1197A>G
XR_001741134.1:n.1197A>G
XR_001741135.1:n.1197A>G
XR_001741136.1:n.1197A>G
XR_001741137.1:n.1197A>G
XR_001741138.1:n.1197A>G
XR_001741139.1:n.1192A>G
Search 100 bp 5'
Search 100 bp 3'