Canonical Allele Identifier: CA398479560
Gene: PIGL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16299968G>C , CM000679.2:g.16299968G>C GRCh38
NC_000017.10:g.16203282G>C , CM000679.1:g.16203282G>C GRCh37
NC_000017.9:g.16144007G>C NCBI36
NG_032651.1:g.87774G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225609.10:c.416G>C MANE Select ENSP00000225609.5:p.Gly139Ala
ENST00000225609.9:c.416G>C ENSP00000225609.5:p.Gly139Ala
ENST00000395844.8:c.416G>C ENSP00000379185.3:p.Gly139Ala
ENST00000477745.5:n.414G>C
ENST00000498772.6:n.433G>C
ENST00000581006.5:c.416G>C ENSP00000462432.1:p.Gly139Ala
ENST00000584797.5:c.416G>C ENSP00000463540.1:p.Gly139Ala
ENST00000585034.5:c.*10G>C ENSP00000464424.1:n.*10G>C
ENST00000607144.4:n.452G>C
NM_004278.3:c.416G>C NP_004269.1:p.Gly139Ala
XM_011524080.1:c.416G>C XP_011522382.1:p.Gly139Ala
XR_243571.2:n.434G>C
XR_429826.2:n.434G>C
XM_011524080.2:c.416G>C XP_011522382.1:p.Gly139Ala
XM_017025349.1:c.416G>C XP_016880838.1:p.Gly139Ala
XM_017025350.1:c.416G>C XP_016880839.1:p.Gly139Ala
XM_017025351.1:c.416G>C XP_016880840.1:p.Gly139Ala
XM_017025352.1:c.416G>C XP_016880841.1:p.Gly139Ala
XM_017025353.1:c.416G>C XP_016880842.1:p.Gly139Ala
XM_017025354.1:c.416G>C XP_016880843.1:p.Gly139Ala
XM_017025355.1:c.416G>C XP_016880844.1:p.Gly139Ala
XM_017025356.1:c.416G>C XP_016880845.1:p.Gly139Ala
NM_004278.4:c.416G>C MANE Select NP_004269.1:p.Gly139Ala