Canonical Allele Identifier: CA7560758
Gene: GLDN HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.51404526C>A
GRCh37 chr15:g.51696723C>A
Revel Score:
ENST00000335449 (MANE Select) 0.952
ENST00000396399 0.952
ENST00000537339 0.952
gnomAD v2:
15:51696723 C / A
gnomAD v3:
15:51404526 C / A
gnomAD v4:
chr15-51404526-C-A
Joint Max Group AF 0.00002074 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00001998 (NFE)
ClinVar Allele:
445387
ClinVar RCV:
RCV000524042
RCV000855464
ClinVar Variation:
452116
dbSNP:
750803388
JSON-LD

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
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