Canonical Allele Identifier: CA150777

Gene: CEP19 PIGX

Linked Data

• ClinVar Variation Id: 120189
• ClinVar RCV Id: RCV000106311 ; RCV001208623
• dbSNP Id: rs587777230
• gnomAD v3: 3-196707811-G-A
• gnomAD v4: 3-196707811-G-A
• MyVariant Identifiers: chr3:g.196434682G>A (hg19) ; chr3:g.196707811G>A (hg38)
• PubMed: PMID:24268657

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.196707811G>A , CM000665.2:g.196707811G>A	GRCh38
NC_000003.11:g.196434682G>A , CM000665.1:g.196434682G>A	GRCh37
NC_000003.10:g.197919079G>A	NCBI36
NG_034109.1:g.9484C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409690.5:c.232C>T (CEP19) MANE Select	ENSP00000387209.4:p.Arg78Ter
ENST00000399942.4:c.127C>T (CEP19)	ENSP00000382823.4:p.Arg43Ter
ENST00000409690.3:c.244C>T (CEP19)	ENSP00000387209.3:p.Arg82Ter
ENST00000426755.5:c.-11-9047G>A (PIGX)	ENSP00000409073.1:n.-11-9047G>A
NM_032898.4:c.244C>T (CEP19)	NP_116287.2:p.Arg82Ter
XM_005269370.3:c.244C>T (CEP19)	XP_005269427.1:p.Arg82Ter
XM_011513246.1:c.244C>T (CEP19)	XP_011511548.1:p.Arg82Ter
XM_005269370.4:c.244C>T (CEP19)	XP_005269427.1:p.Arg82Ter
XM_011513246.3:c.244C>T (CEP19)	XP_011511548.1:p.Arg82Ter
NM_032898.5:c.232C>T (CEP19) MANE Select	NP_116287.3:p.Arg78Ter
NM_001379468.1:c.127C>T (CEP19)	NP_001366397.1:p.Arg43Ter
NM_001379469.1:c.232C>T (CEP19)	NP_001366398.1:p.Arg78Ter
NM_001379470.1:c.232C>T (CEP19)	NP_001366399.1:p.Arg78Ter