Canonical Allele Identifier: CA7560758

Gene: GLDN

Linked Data

• ClinVar Variation Id: 452116
• ClinVar RCV Id: RCV000524042 ; RCV000855464
• dbSNP Id: rs750803388
• ExAC: 15:51696723 C / A
• gnomAD v2: 15-51696723-C-A
• gnomAD v3: 15-51404526-C-A
• gnomAD v4: 15-51404526-C-A
• MyVariant Identifiers: chr15:g.51696723C>A (hg19) ; chr15:g.51404526C>A (hg38)

Genomic Alleles

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

Transcript Alleles

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