Canonical Allele Identifier: CA313385577
Gene: PIGU HGNC NCBI
COSMIC:
COSN17498775 (not active)
MyVariant.info:
GRCh38 chr20:g.34630286G>A
GRCh37 chr20:g.33218090G>A
gnomAD v2:
20:33218090 G / A
gnomAD v3:
20:34630286 G / A
gnomAD v4:
chr20-34630286-G-A
Joint Max Group AF 0.90290942 (AMR)
Genomes Max Group AF 0.90290942 (AMR)
dbSNP:
2378249
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.34630286G>A , CM000682.2:g.34630286G>A GRCh38
NC_000020.10:g.33218090G>A , CM000682.1:g.33218090G>A GRCh37
NC_000020.9:g.32681751G>A NCBI36
NG_011497.1:g.52000C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000217446.8:c.529+4329C>T MANE Select ENSP00000217446.3:n.529+4329C>T
ENST00000217446.7:c.529+4329C>T ENSP00000217446.3:n.529+4329C>T
ENST00000374820.6:c.469+4329C>T ENSP00000363953.2:n.469+4329C>T
ENST00000480175.1:n.89+4329C>T
ENST00000628281.2:n.495+4329C>T
NM_080476.4:c.529+4329C>T NP_536724.1:n.529+4329C>T
XM_017027664.1:c.529+4329C>T XP_016883153.1:n.529+4329C>T
XM_017027665.2:c.529+4329C>T XP_016883154.1:n.529+4329C>T
XR_001754162.1:n.547+4329C>T
XR_001754163.1:n.547+4329C>T
NM_080476.5:c.529+4329C>T MANE Select NP_536724.1:n.529+4329C>T
Search 100 bp 5'
Search 100 bp 3'