Canonical Allele Identifier: CA188651001

Gene: GLDC

Linked Data

• ClinVar Variation Id: 2416652
• ClinVar RCV Id: RCV003108903
• dbSNP Id: rs752086205
• gnomAD v3: 9-6556313-A-G
• gnomAD v4: 9-6556313-A-G
• MyVariant Identifiers: chr9:g.6556313A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556313A>G , CM000671.2:g.6556313A>G	GRCh38
NC_000009.11:g.6556313A>G , CM000671.1:g.6556313A>G	GRCh37
NC_000009.10:g.6546313A>G	NCBI36
NG_016397.1:g.94380T>C , LRG_643:g.94380T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000321612.8:c.2053-11T>C MANE Select	ENSP00000370737.4:n.2053-11T>C
ENST00000638233.1:n.488-11T>C
ENST00000638661.1:c.253-11T>C	ENSP00000491369.1:n.253-11T>C
ENST00000638694.1:n.240-11T>C
ENST00000639318.1:c.253-11T>C	ENSP00000491932.1:n.253-11T>C
ENST00000639364.1:n.1753-11T>C
ENST00000639443.1:n.1621-11T>C
ENST00000639954.1:n.1761-11T>C
ENST00000640505.1:n.292-11T>C
ENST00000321612.6:c.2053-11T>C	ENSP00000370737.3:n.2053-11T>C
NM_000170.2:c.2053-11T>C , LRG_643t1:c.2053-11T>C	NP_000161.2:n.2053-11T>C
NM_000170.3:c.2053-11T>C MANE Select	NP_000161.2:n.2053-11T>C