Canonical Allele Identifier: CA2740095423

Gene: GLDC

Linked Data

• ClinVar Variation Id: 2964126
• ClinVar RCV Id: RCV003820228

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558549A>G , CM000671.2:g.6558549A>G	GRCh38
NC_000009.11:g.6558549A>G , CM000671.1:g.6558549A>G	GRCh37
NC_000009.10:g.6548549A>G	NCBI36
NG_016397.1:g.92144T>C , LRG_643:g.92144T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2052+10T>C MANE Select	ENSP00000370737.4:n.2052+10T>C
ENST00000460457.2:n.212+10T>C
ENST00000638233.1:n.487+10T>C
ENST00000638661.1:c.252+10T>C	ENSP00000491369.1:n.252+10T>C
ENST00000638694.1:n.239+10T>C
ENST00000639318.1:c.252+10T>C	ENSP00000491932.1:n.252+10T>C
ENST00000639364.1:n.1752+10T>C
ENST00000639443.1:n.1620+10T>C
ENST00000639954.1:n.1760+10T>C
ENST00000640208.1:c.262T>C	ENSP00000491895.1:p.Phe88Leu
ENST00000640505.1:n.291+10T>C
ENST00000640592.1:n.1945T>C
ENST00000321612.6:c.2052+10T>C	ENSP00000370737.3:n.2052+10T>C
ENST00000460457.1:n.201T>C
NM_000170.2:c.2052+10T>C , LRG_643t1:c.2052+10T>C	NP_000161.2:n.2052+10T>C
NM_000170.3:c.2052+10T>C MANE Select	NP_000161.2:n.2052+10T>C