Canonical Allele Identifier: CA936880971

Gene: PRR5L

Linked Data

• dbSNP Id: rs1218234612
• gnomAD v3: 11-36350133-A-C
• gnomAD v4: 11-36350133-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36350133A>C , CM000673.2:g.36350133A>C	GRCh38
NC_000011.9:g.36371683A>C , CM000673.1:g.36371683A>C	GRCh37
NC_000011.8:g.36328259A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000530639.6:c.-125-50864A>C MANE Select	ENSP00000435050.1:n.-125-50864A>C
ENST00000527172.5:c.-291-43713A>C	ENSP00000433708.1:n.-291-43713A>C
ENST00000529034.5:n.152-50864A>C
ENST00000530639.5:c.-125-50864A>C	ENSP00000435050.1:n.-125-50864A>C
ENST00000532121.5:c.-126+68A>C	ENSP00000433893.1:n.-126+68A>C
NM_001160167.1:c.-125-50864A>C	NP_001153639.1:n.-125-50864A>C
NM_001160167.2:c.-125-50864A>C MANE Select	NP_001153639.1:n.-125-50864A>C