Canonical Allele Identifier: CA2361292320
Gene: PIGU HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000217446.8:c.529+4329C>G MANE Select ENSP00000217446.3:n.529+4329C>G
ENST00000217446.7:c.529+4329C>G ENSP00000217446.3:n.529+4329C>G
ENST00000374820.6:c.469+4329C>G ENSP00000363953.2:n.469+4329C>G
ENST00000480175.1:n.89+4329C>G
ENST00000628281.2:n.495+4329C>G
NM_080476.4:c.529+4329C>G NP_536724.1:n.529+4329C>G
XM_017027664.1:c.529+4329C>G XP_016883153.1:n.529+4329C>G
XM_017027665.2:c.529+4329C>G XP_016883154.1:n.529+4329C>G
XR_001754162.1:n.547+4329C>G
XR_001754163.1:n.547+4329C>G
NM_080476.5:c.529+4329C>G MANE Select NP_536724.1:n.529+4329C>G