Canonical Allele Identifier: CA358375687

Gene: PABPC4L

Linked Data

• dbSNP Id: rs1339506740
• gnomAD v4: 4-134200857-A-G
• MyVariant Identifiers: chr4:g.135122012A>G (hg19) ; chr4:g.134200857A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.134200857A>G , CM000666.2:g.134200857A>G	GRCh38
NC_000004.11:g.135122012A>G , CM000666.1:g.135122012A>G	GRCh37
NC_000004.10:g.135341462A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421491.4:c.163T>C MANE Select	ENSP00000463233.1:p.Tyr55His
ENST00000421491.3:c.163T>C	ENSP00000463233.1:p.Tyr55His
NM_001114734.1:c.337T>C	NP_001108206.2:p.Tyr113His
NM_001114734.2:c.163T>C MANE Select	NP_001108206.3:p.Tyr55His
NM_001363585.1:c.163T>C	NP_001350514.1:p.Tyr55His
XR_001741133.1:n.702T>C
XR_001741134.1:n.702T>C
XR_001741135.1:n.702T>C
XR_001741136.1:n.702T>C
XR_001741137.1:n.702T>C
XR_001741138.1:n.702T>C
XR_001741139.1:n.697T>C