Canonical Allele Identifier: CA7560532
Gene: GLDN HGNC NCBI
COSMIC:
COSM4998022 (not active)
MyVariant.info:
GRCh38 chr15:g.51397575G>A
GRCh37 chr15:g.51689772G>A
Revel Score:
ENST00000335449 (MANE Select) 0.241
ENST00000396399 0.241
ENST00000537339 0.241
gnomAD v2:
15:51689772 G / A
gnomAD v3:
15:51397575 G / A
gnomAD v4:
chr15-51397575-G-A
Joint Max Group AF 0.49990668 (EAS)
Genomes Max Group AF 0.47732388 (EAS)
Exomes Max Group AF 0.5011748 (EAS)
ClinVar RCV:
RCV001702196
ClinVar Variation:
1285294
dbSNP:
17648128
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.51397575G>A , CM000677.2:g.51397575G>A GRCh38
NC_000015.9:g.51689772G>A , CM000677.1:g.51689772G>A GRCh37
NC_000015.8:g.49477064G>A NCBI36
NG_054933.1:g.61060G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000335449.11:c.794G>A MANE Select ENSP00000335196.6:p.Ser265Asn
ENST00000335449.10:c.794G>A ENSP00000335196.6:p.Ser265Asn
ENST00000396399.6:c.422G>A ENSP00000379681.2:p.Ser141Asn
ENST00000558426.5:c.452G>A ENSP00000453433.1:p.Ser151Asn
ENST00000612989.1:c.422G>A ENSP00000479249.1:p.Ser141Asn
NM_181789.2:c.794G>A NP_861454.2:p.Ser265Asn
XM_011521501.1:c.434G>A XP_011519803.1:p.Ser145Asn
NM_001330297.1:c.422G>A NP_001317226.1:p.Ser141Asn
NM_181789.3:c.794G>A NP_861454.2:p.Ser265Asn
XM_011521501.2:c.434G>A XP_011519803.1:p.Ser145Asn
XM_017022121.1:c.776G>A XP_016877610.1:p.Ser259Asn
XM_017022122.2:c.422G>A XP_016877611.1:p.Ser141Asn
XM_017022124.2:c.422G>A XP_016877613.1:p.Ser141Asn
XM_017022125.1:c.794G>A XP_016877614.1:p.Ser265Asn
XM_017022126.2:c.422G>A XP_016877615.1:p.Ser141Asn
NM_181789.4:c.794G>A MANE Select NP_861454.2:p.Ser265Asn
NM_001330297.2:c.422G>A NP_001317226.1:p.Ser141Asn
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