Canonical Allele Identifier: CA2573144492

Gene: GLDC

Linked Data

• ClinVar Variation Id: 1602844
• ClinVar RCV Id: RCV002146843
• dbSNP Id: rs2129734705

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558551A>T , CM000671.2:g.6558551A>T	GRCh38
NC_000009.11:g.6558551A>T , CM000671.1:g.6558551A>T	GRCh37
NC_000009.10:g.6548551A>T	NCBI36
NG_016397.1:g.92142T>A , LRG_643:g.92142T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2052+8T>A MANE Select	ENSP00000370737.4:n.2052+8T>A
ENST00000460457.2:n.212+8T>A
ENST00000638233.1:n.487+8T>A
ENST00000638661.1:c.252+8T>A	ENSP00000491369.1:n.252+8T>A
ENST00000638694.1:n.239+8T>A
ENST00000639318.1:c.252+8T>A	ENSP00000491932.1:n.252+8T>A
ENST00000639364.1:n.1752+8T>A
ENST00000639443.1:n.1620+8T>A
ENST00000639954.1:n.1760+8T>A
ENST00000640208.1:c.260T>A	ENSP00000491895.1:p.Val87Asp
ENST00000640505.1:n.291+8T>A
ENST00000640592.1:n.1943T>A
ENST00000321612.6:c.2052+8T>A	ENSP00000370737.3:n.2052+8T>A
ENST00000460457.1:n.199T>A
NM_000170.2:c.2052+8T>A , LRG_643t1:c.2052+8T>A	NP_000161.2:n.2052+8T>A
NM_000170.3:c.2052+8T>A MANE Select	NP_000161.2:n.2052+8T>A