Canonical Allele Identifier: CA2689358807

Gene: GLDC

Linked Data

• dbSNP Id: rs2129734604
• gnomAD v4: 9-6558529-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558529T>C , CM000671.2:g.6558529T>C	GRCh38
NC_000009.11:g.6558529T>C , CM000671.1:g.6558529T>C	GRCh37
NC_000009.10:g.6548529T>C	NCBI36
NG_016397.1:g.92164A>G , LRG_643:g.92164A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2052+30A>G MANE Select	ENSP00000370737.4:n.2052+30A>G
ENST00000460457.2:n.212+30A>G
ENST00000638233.1:n.487+30A>G
ENST00000638661.1:c.252+30A>G	ENSP00000491369.1:n.252+30A>G
ENST00000638694.1:n.239+30A>G
ENST00000639318.1:c.252+30A>G	ENSP00000491932.1:n.252+30A>G
ENST00000639364.1:n.1752+30A>G
ENST00000639443.1:n.1620+30A>G
ENST00000639954.1:n.1760+30A>G
ENST00000640208.1:c.282A>G	ENSP00000491895.1:p.Arg94=
ENST00000640505.1:n.291+30A>G
ENST00000640592.1:n.1965A>G
ENST00000321612.6:c.2052+30A>G	ENSP00000370737.3:n.2052+30A>G
ENST00000460457.1:n.221A>G
NM_000170.2:c.2052+30A>G , LRG_643t1:c.2052+30A>G	NP_000161.2:n.2052+30A>G
NM_000170.3:c.2052+30A>G MANE Select	NP_000161.2:n.2052+30A>G