Canonical Allele Identifier: CA617903231

Gene: GLDN

Linked Data

• dbSNP Id: rs1254594463
• gnomAD v2: 15-51653131-G-T
• gnomAD v3: 15-51360934-G-T
• gnomAD v4: 15-51360934-G-T
• MyVariant Identifiers: chr15:g.51653131G>T (hg19) ; chr15:g.51360934G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.51360934G>T , CM000677.2:g.51360934G>T	GRCh38
NC_000015.9:g.51653131G>T , CM000677.1:g.51653131G>T	GRCh37
NC_000015.8:g.49440423G>T	NCBI36
NG_054933.1:g.24419G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000335449.11:c.364-16515G>T MANE Select	ENSP00000335196.6:n.364-16515G>T
ENST00000335449.10:c.364-16515G>T	ENSP00000335196.6:n.364-16515G>T
ENST00000558286.5:n.174+18887G>T
ENST00000559317.5:n.284+397G>T
ENST00000560215.5:c.251-16515G>T
ENST00000560690.5:n.141-16515G>T
NM_181789.2:c.364-16515G>T	NP_861454.2:n.364-16515G>T
NM_181789.3:c.364-16515G>T	NP_861454.2:n.364-16515G>T
XM_017022121.1:c.364-16515G>T	XP_016877610.1:n.364-16515G>T
XM_017022122.2:c.-10+397G>T	XP_016877611.1:n.-10+397G>T
XM_017022124.2:c.-9-16515G>T	XP_016877613.1:n.-9-16515G>T
XM_017022125.1:c.364-16515G>T	XP_016877614.1:n.364-16515G>T
XM_017022126.2:c.-9-16515G>T	XP_016877615.1:n.-9-16515G>T
NM_181789.4:c.364-16515G>T MANE Select	NP_861454.2:n.364-16515G>T