Canonical Allele Identifier: CA4980677

Gene: GLDC

Linked Data

• ClinVar Variation Id: 367191
• ClinVar RCV Id: RCV000391608
• dbSNP Id: rs371777070
• ExAC: 9:6589307 C / G
• gnomAD v2: 9-6589307-C-G
• gnomAD v3: 9-6589307-C-G
• gnomAD v4: 9-6589307-C-G
• MyVariant Identifiers: chr9:g.6589307C>G (hg19) ; chr9:g.6589307C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6589307C>G , CM000671.2:g.6589307C>G	GRCh38
NC_000009.11:g.6589307C>G , CM000671.1:g.6589307C>G	GRCh37
NC_000009.10:g.6579307C>G	NCBI36
NG_016397.1:g.61386G>C , LRG_643:g.61386G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1483-15G>C MANE Select	ENSP00000370737.4:n.1483-15G>C
ENST00000639364.1:n.1183-15G>C
ENST00000639443.1:n.1051-15G>C
ENST00000639954.1:n.1191-15G>C
ENST00000640592.1:n.1366-15G>C
ENST00000321612.6:c.1483-15G>C	ENSP00000370737.3:n.1483-15G>C
ENST00000463305.1:n.567-15G>C
NM_000170.2:c.1483-15G>C , LRG_643t1:c.1483-15G>C	NP_000161.2:n.1483-15G>C
NM_000170.3:c.1483-15G>C MANE Select	NP_000161.2:n.1483-15G>C