Canonical Allele Identifier: CA4980359

Gene: GLDC

Linked Data

• ClinVar Variation Id: 791715
• ClinVar RCV Id: RCV000974736
• dbSNP Id: rs577906178
• ExAC: 9:6556145 G / T
• gnomAD v2: 9-6556145-G-T
• gnomAD v3: 9-6556145-G-T
• gnomAD v4: 9-6556145-G-T
• MyVariant Identifiers: chr9:g.6556145G>T (hg19) ; chr9:g.6556145G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556145G>T , CM000671.2:g.6556145G>T	GRCh38
NC_000009.11:g.6556145G>T , CM000671.1:g.6556145G>T	GRCh37
NC_000009.10:g.6546145G>T	NCBI36
NG_016397.1:g.94548C>A , LRG_643:g.94548C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2202+8C>A MANE Select	ENSP00000370737.4:n.2202+8C>A
ENST00000638233.1:n.637+8C>A
ENST00000638661.1:c.402+8C>A	ENSP00000491369.1:n.402+8C>A
ENST00000638694.1:n.389+8C>A
ENST00000639318.1:c.402+8C>A	ENSP00000491932.1:n.402+8C>A
ENST00000639364.1:n.1902+8C>A
ENST00000639443.1:n.1770+8C>A
ENST00000639954.1:n.1910+8C>A
ENST00000640505.1:n.441+8C>A
ENST00000321612.6:c.2202+8C>A	ENSP00000370737.3:n.2202+8C>A
NM_000170.2:c.2202+8C>A , LRG_643t1:c.2202+8C>A	NP_000161.2:n.2202+8C>A
NM_000170.3:c.2202+8C>A MANE Select	NP_000161.2:n.2202+8C>A