Canonical Allele Identifier: CA2782385
Gene: PIGX HGNC NCBI

Linked Data

ClinVar Variation Id: 493386
ClinVar RCV Id: RCV000584932
dbSNP Id: rs574821838
ExAC: 3:196457958 A / G
gnomAD v2: 3-196457958-A-G
gnomAD v3: 3-196731087-A-G
gnomAD v4: 3-196731087-A-G
MyVariant Identifiers: chr3:g.196457958A>G (hg19) chr3:g.196731087A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.196731087A>G , CM000665.2:g.196731087A>G GRCh38
NC_000003.11:g.196457958A>G , CM000665.1:g.196457958A>G GRCh37
NC_000003.10:g.197942355A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296333.10:c.682A>G ENSP00000296333.6:p.Lys228Glu
ENST00000392391.9:c.628A>G MANE Select ENSP00000376192.4:p.Lys210Glu
ENST00000296333.9:c.682A>G ENSP00000296333.5:p.Lys228Glu
ENST00000392391.7:c.628A>G ENSP00000376192.3:p.Lys210Glu
ENST00000415832.5:c.*436A>G ENSP00000413672.1:n.*436A>G
ENST00000426755.5:c.505A>G ENSP00000409073.1:p.Lys169Glu
ENST00000453218.6:c.781A>G ENSP00000393424.2:n.781A>G
NM_001166304.1:c.682A>G NP_001159776.1:p.Lys228Glu
NM_017861.3:c.628A>G NP_060331.3:p.Lys210Glu
NM_001166304.2:c.682A>G NP_001159776.1:p.Lys228Glu
NM_017861.4:c.628A>G MANE Select NP_060331.3:p.Lys210Glu
Search 100 bp 5'
Search 100 bp 3'