Canonical Allele Identifier: CA4980447

Gene: GLDC

Linked Data

• dbSNP Id: rs760983899
• ExAC: 9:6558606 C / T
• gnomAD v2: 9-6558606-C-T
• gnomAD v3: 9-6558606-C-T
• gnomAD v4: 9-6558606-C-T
• MyVariant Identifiers: chr9:g.6558606C>T (hg19) ; chr9:g.6558606C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558606C>T , CM000671.2:g.6558606C>T	GRCh38
NC_000009.11:g.6558606C>T , CM000671.1:g.6558606C>T	GRCh37
NC_000009.10:g.6548606C>T	NCBI36
NG_016397.1:g.92087G>A , LRG_643:g.92087G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2005G>A MANE Select	ENSP00000370737.4:p.Glu669Lys
ENST00000460457.2:n.165G>A
ENST00000638233.1:n.440G>A
ENST00000638661.1:c.205G>A	ENSP00000491369.1:p.Glu69Lys
ENST00000638694.1:n.192G>A
ENST00000639318.1:c.205G>A	ENSP00000491932.1:p.Glu69Lys
ENST00000639364.1:n.1705G>A
ENST00000639443.1:n.1573G>A
ENST00000639954.1:n.1713G>A
ENST00000640208.1:c.205G>A	ENSP00000491895.1:p.Glu69Lys
ENST00000640505.1:n.244G>A
ENST00000640592.1:n.1888G>A
ENST00000321612.6:c.2005G>A	ENSP00000370737.3:p.Glu669Lys
ENST00000460457.1:n.144G>A
NM_000170.2:c.2005G>A , LRG_643t1:c.2005G>A	NP_000161.2:p.Glu669Lys
NM_000170.3:c.2005G>A MANE Select	NP_000161.2:p.Glu669Lys