Canonical Allele Identifier: CA4980420

Gene: GLDC

Linked Data

• dbSNP Id: rs775672615
• ExAC: 9:6558530 C / A
• gnomAD v2: 9-6558530-C-A
• gnomAD v3: 9-6558530-C-A
• gnomAD v4: 9-6558530-C-A
• MyVariant Identifiers: chr9:g.6558530C>A (hg19) ; chr9:g.6558530C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558530C>A , CM000671.2:g.6558530C>A	GRCh38
NC_000009.11:g.6558530C>A , CM000671.1:g.6558530C>A	GRCh37
NC_000009.10:g.6548530C>A	NCBI36
NG_016397.1:g.92163G>T , LRG_643:g.92163G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2052+29G>T MANE Select	ENSP00000370737.4:n.2052+29G>T
ENST00000460457.2:n.212+29G>T
ENST00000638233.1:n.487+29G>T
ENST00000638661.1:c.252+29G>T	ENSP00000491369.1:n.252+29G>T
ENST00000638694.1:n.239+29G>T
ENST00000639318.1:c.252+29G>T	ENSP00000491932.1:n.252+29G>T
ENST00000639364.1:n.1752+29G>T
ENST00000639443.1:n.1620+29G>T
ENST00000639954.1:n.1760+29G>T
ENST00000640208.1:c.281G>T	ENSP00000491895.1:p.Arg94Ile
ENST00000640505.1:n.291+29G>T
ENST00000640592.1:n.1964G>T
ENST00000321612.6:c.2052+29G>T	ENSP00000370737.3:n.2052+29G>T
ENST00000460457.1:n.220G>T
NM_000170.2:c.2052+29G>T , LRG_643t1:c.2052+29G>T	NP_000161.2:n.2052+29G>T
NM_000170.3:c.2052+29G>T MANE Select	NP_000161.2:n.2052+29G>T