Canonical Allele Identifier: CA2928011

Gene: CEP135

Linked Data

• ClinVar Variation Id: 434721
• ClinVar RCV Id: RCV000503415 ; RCV002060106 ; RCV003960158
• dbSNP Id: rs375822537
• ExAC: 4:56858162 G / A
• gnomAD v2: 4-56858162-G-A
• gnomAD v3: 4-55991996-G-A
• gnomAD v4: 4-55991996-G-A
• MyVariant Identifiers: chr4:g.56858162G>A (hg19) ; chr4:g.55991996G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55991996G>A , CM000666.2:g.55991996G>A	GRCh38
NC_000004.11:g.56858162G>A , CM000666.1:g.56858162G>A	GRCh37
NC_000004.10:g.56552919G>A	NCBI36
NG_032806.1:g.48189G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000257287.5:c.1920G>A MANE Select	ENSP00000257287.3:p.Ser640=
ENST00000257287.4:c.1920G>A	ENSP00000257287.3:p.Ser640=
ENST00000506202.1:n.1870G>A
NM_025009.4:c.1920G>A	NP_079285.2:p.Ser640=
XM_005265788.2:c.849G>A	XP_005265845.1:p.Ser283=
XM_006714055.2:c.1887G>A	XP_006714118.1:p.Ser629=
XM_011534412.1:c.390G>A	XP_011532714.1:p.Ser130=
XM_005265788.4:c.849G>A	XP_005265845.1:p.Ser283=
XM_006714055.3:c.1887G>A	XP_006714118.1:p.Ser629=
XM_011534412.2:c.390G>A	XP_011532714.1:p.Ser130=
NM_025009.5:c.1920G>A MANE Select	NP_079285.2:p.Ser640=