Canonical Allele Identifier: CA392435286
Gene: GLDN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.51404526C>G , CM000677.2:g.51404526C>G GRCh38
NC_000015.9:g.51696723C>G , CM000677.1:g.51696723C>G GRCh37
NC_000015.8:g.49484015C>G NCBI36
NG_054933.1:g.68011C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000335449.11:c.1428C>G MANE Select ENSP00000335196.6:p.Phe476Leu
ENST00000335449.10:c.1428C>G ENSP00000335196.6:p.Phe476Leu
ENST00000396399.6:c.1056C>G ENSP00000379681.2:p.Phe352Leu
ENST00000612989.1:c.1056C>G ENSP00000479249.1:p.Phe352Leu
NM_181789.2:c.1428C>G NP_861454.2:p.Phe476Leu
XM_011521501.1:c.1068C>G XP_011519803.1:p.Phe356Leu
NM_001330297.1:c.1056C>G NP_001317226.1:p.Phe352Leu
NM_181789.3:c.1428C>G NP_861454.2:p.Phe476Leu
XM_011521501.2:c.1068C>G XP_011519803.1:p.Phe356Leu
XM_017022121.1:c.1410C>G XP_016877610.1:p.Phe470Leu
XM_017022122.2:c.1056C>G XP_016877611.1:p.Phe352Leu
XM_017022124.2:c.1056C>G XP_016877613.1:p.Phe352Leu
XM_017022125.1:c.1178+2783C>G XP_016877614.1:n.1178+2783C>G
XM_017022126.2:c.806+2783C>G XP_016877615.1:n.806+2783C>G
NM_181789.4:c.1428C>G MANE Select NP_861454.2:p.Phe476Leu
NM_001330297.2:c.1056C>G NP_001317226.1:p.Phe352Leu