Canonical Allele Identifier: CA4981111

Gene: GLDC

Linked Data

• ClinVar Variation Id: 255458
• ClinVar RCV Id: RCV000245433 ; RCV000711820 ; RCV001083509
• dbSNP Id: rs150193069
• ExAC: 9:6610329 A / G
• gnomAD v2: 9-6610329-A-G
• gnomAD v3: 9-6610329-A-G
• gnomAD v4: 9-6610329-A-G
• MyVariant Identifiers: chr9:g.6610329A>G (hg19) ; chr9:g.6610329_6610330delinsGG (hg19) ; chr9:g.6610329A>G (hg38) ; chr9:g.6610329_6610330delinsGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6610329A>G , CM000671.2:g.6610329A>G	GRCh38
NC_000009.11:g.6610329A>G , CM000671.1:g.6610329A>G	GRCh37
NC_000009.10:g.6600329A>G	NCBI36
NG_016397.1:g.40364T>C , LRG_643:g.40364T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.498T>C MANE Select	ENSP00000370737.4:p.Pro166=
ENST00000639020.1:c.93T>C	ENSP00000491392.1:p.Pro31=
ENST00000639364.1:n.198T>C
ENST00000639840.1:c.204T>C	ENSP00000491161.1:p.Pro68=
ENST00000639954.1:n.206T>C
ENST00000640592.1:n.381T>C
ENST00000321612.6:c.498T>C	ENSP00000370737.3:p.Pro166=
NM_000170.2:c.498T>C , LRG_643t1:c.498T>C	NP_000161.2:p.Pro166=
NM_000170.3:c.498T>C MANE Select	NP_000161.2:p.Pro166=