Canonical Allele Identifier: CA2636282132
Gene: PIGL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16317927T>C , CM000679.2:g.16317927T>C GRCh38
NC_000017.10:g.16221241T>C , CM000679.1:g.16221241T>C GRCh37
NC_000017.9:g.16161966T>C NCBI36
NG_032651.1:g.105733T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000225609.10:c.660+19T>C MANE Select ENSP00000225609.5:n.660+19T>C
ENST00000225609.9:c.660+19T>C ENSP00000225609.5:n.660+19T>C
ENST00000395844.8:c.628+19T>C ENSP00000379185.3:n.628+19T>C
ENST00000477745.5:n.658+19T>C
ENST00000488375.2:n.518+19T>C
ENST00000581006.5:c.426+17949T>C ENSP00000462432.1:n.426+17949T>C
ENST00000596678.2:c.202+19T>C ENSP00000470064.2:n.202+19T>C
ENST00000613719.1:n.987+239T>C
NM_004278.3:c.660+19T>C NP_004269.1:n.660+19T>C
XR_243571.2:n.1658+19T>C
XM_017025349.1:c.*824+19T>C XP_016880838.1:n.*824+19T>C
XM_017025350.1:c.*824+19T>C XP_016880839.1:n.*824+19T>C
XM_017025352.1:c.660+19T>C XP_016880841.1:n.660+19T>C
XM_017025353.1:c.660+19T>C XP_016880842.1:n.660+19T>C
XM_017025354.1:c.628+19T>C XP_016880843.1:n.628+19T>C
XM_017025355.1:c.628+19T>C XP_016880844.1:n.628+19T>C
XM_017025356.1:c.*1137+19T>C XP_016880845.1:n.*1137+19T>C
NM_004278.4:c.660+19T>C MANE Select NP_004269.1:n.660+19T>C