Canonical Allele Identifier: CA4980823

Gene: GLDC

Linked Data

• dbSNP Id: rs780227327
• ExAC: 9:6595120 C / G
• gnomAD v2: 9-6595120-C-G
• gnomAD v4: 9-6595120-C-G
• MyVariant Identifiers: chr9:g.6595120C>G (hg19) ; chr9:g.6595120C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6595120C>G , CM000671.2:g.6595120C>G	GRCh38
NC_000009.11:g.6595120C>G , CM000671.1:g.6595120C>G	GRCh37
NC_000009.10:g.6585120C>G	NCBI36
NG_016397.1:g.55573G>C , LRG_643:g.55573G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000321612.8:c.1156-1G>C MANE Select	ENSP00000370737.4:n.1156-1G>C
ENST00000638654.1:c.403-1G>C	ENSP00000491101.1:n.403-1G>C
ENST00000639364.1:n.856-1G>C
ENST00000639443.1:n.724-1G>C
ENST00000639493.1:n.308-1G>C
ENST00000639954.1:n.864-1G>C
ENST00000640592.1:n.1039-1G>C
ENST00000321612.6:c.1156-1G>C	ENSP00000370737.3:n.1156-1G>C
ENST00000463305.1:n.240-1G>C
NM_000170.2:c.1156-1G>C , LRG_643t1:c.1156-1G>C	NP_000161.2:n.1156-1G>C
NM_000170.3:c.1156-1G>C MANE Select	NP_000161.2:n.1156-1G>C