Canonical Allele Identifier: CA270577011

Gene: GLDN

Linked Data

• dbSNP Id: rs1870050
• gnomAD v2: 15-51636551-A-C
• gnomAD v3: 15-51344354-A-C
• gnomAD v4: 15-51344354-A-C
• MyVariant Identifiers: chr15:g.51636551A>C (hg19) ; chr15:g.51344354A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.51344354A>C , CM000677.2:g.51344354A>C	GRCh38
NC_000015.9:g.51636551A>C , CM000677.1:g.51636551A>C	GRCh37
NC_000015.8:g.49423843A>C	NCBI36
NG_054933.1:g.7839A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000335449.11:c.363+2307A>C MANE Select	ENSP00000335196.6:n.363+2307A>C
ENST00000335449.10:c.363+2307A>C	ENSP00000335196.6:n.363+2307A>C
ENST00000558286.5:n.174+2307A>C
ENST00000560215.5:c.250+2307A>C
ENST00000560690.5:n.140+2269A>C
NM_181789.2:c.363+2307A>C	NP_861454.2:n.363+2307A>C
NM_181789.3:c.363+2307A>C	NP_861454.2:n.363+2307A>C
XM_017022121.1:c.363+2307A>C	XP_016877610.1:n.363+2307A>C
XM_017022124.2:c.-10+2269A>C	XP_016877613.1:n.-10+2269A>C
XM_017022125.1:c.363+2307A>C	XP_016877614.1:n.363+2307A>C
XM_017022126.2:c.-10+2269A>C	XP_016877615.1:n.-10+2269A>C
NM_181789.4:c.363+2307A>C MANE Select	NP_861454.2:n.363+2307A>C