Canonical Allele Identifier: CA7560725

Gene: GLDN

Linked Data

• ClinVar Variation Id: 488521
• ClinVar RCV Id: RCV000578440 ; RCV000627011 ; RCV000627012
• dbSNP Id: rs775011495
• ExAC: 15:51696600 G / A
• gnomAD v2: 15-51696600-G-A
• gnomAD v3: 15-51404403-G-A
• gnomAD v4: 15-51404403-G-A
• MyVariant Identifiers: chr15:g.51696600G>A (hg19) ; chr15:g.51404403G>A (hg38)
• PubMed: PMID:28726266

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.51404403G>A , CM000677.2:g.51404403G>A	GRCh38
NC_000015.9:g.51696600G>A , CM000677.1:g.51696600G>A	GRCh37
NC_000015.8:g.49483892G>A	NCBI36
NG_054933.1:g.67888G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335449.11:c.1305G>A MANE Select	ENSP00000335196.6:p.Trp435Ter
ENST00000335449.10:c.1305G>A	ENSP00000335196.6:p.Trp435Ter
ENST00000396399.6:c.933G>A	ENSP00000379681.2:p.Trp311Ter
ENST00000612989.1:c.933G>A	ENSP00000479249.1:p.Trp311Ter
NM_181789.2:c.1305G>A	NP_861454.2:p.Trp435Ter
XM_011521501.1:c.945G>A	XP_011519803.1:p.Trp315Ter
NM_001330297.1:c.933G>A	NP_001317226.1:p.Trp311Ter
NM_181789.3:c.1305G>A	NP_861454.2:p.Trp435Ter
XM_011521501.2:c.945G>A	XP_011519803.1:p.Trp315Ter
XM_017022121.1:c.1287G>A	XP_016877610.1:p.Trp429Ter
XM_017022122.2:c.933G>A	XP_016877611.1:p.Trp311Ter
XM_017022124.2:c.933G>A	XP_016877613.1:p.Trp311Ter
XM_017022125.1:c.1178+2660G>A	XP_016877614.1:n.1178+2660G>A
XM_017022126.2:c.806+2660G>A	XP_016877615.1:n.806+2660G>A
NM_181789.4:c.1305G>A MANE Select	NP_861454.2:p.Trp435Ter
NM_001330297.2:c.933G>A	NP_001317226.1:p.Trp311Ter