Canonical Allele Identifier: CA106325739

Gene: PABPC4L

Linked Data

• dbSNP Id: rs754179870
• gnomAD v4: 4-134200353-T-A
• MyVariant Identifiers: chr4:g.135121508T>A (hg19) ; chr4:g.134200353T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.134200353T>A , CM000666.2:g.134200353T>A	GRCh38
NC_000004.11:g.135121508T>A , CM000666.1:g.135121508T>A	GRCh37
NC_000004.10:g.135340958T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421491.4:c.667A>T MANE Select	ENSP00000463233.1:p.Thr223Ser
ENST00000421491.3:c.667A>T	ENSP00000463233.1:p.Thr223Ser
NM_001114734.1:c.841A>T	NP_001108206.2:p.Thr281Ser
NM_001114734.2:c.667A>T MANE Select	NP_001108206.3:p.Thr223Ser
NM_001363585.1:c.667A>T	NP_001350514.1:p.Thr223Ser
XR_001741133.1:n.1206A>T
XR_001741134.1:n.1206A>T
XR_001741135.1:n.1206A>T
XR_001741136.1:n.1206A>T
XR_001741137.1:n.1206A>T
XR_001741138.1:n.1206A>T
XR_001741139.1:n.1201A>T