Canonical Allele Identifier: CA585763377
Gene: GLDC HGNC NCBI

Linked Data

ClinVar Variation Id: 2162052
ClinVar RCV Id: RCV003089816
dbSNP Id: rs1265639786
gnomAD v2: 9-6558555-G-A
gnomAD v3: 9-6558555-G-A
gnomAD v4: 9-6558555-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6558555G>A , CM000671.2:g.6558555G>A GRCh38
NC_000009.11:g.6558555G>A , CM000671.1:g.6558555G>A GRCh37
NC_000009.10:g.6548555G>A NCBI36
NG_016397.1:g.92138C>T , LRG_643:g.92138C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2052+4C>T MANE Select ENSP00000370737.4:n.2052+4C>T
ENST00000460457.2:n.212+4C>T
ENST00000638233.1:n.487+4C>T
ENST00000638661.1:c.252+4C>T ENSP00000491369.1:n.252+4C>T
ENST00000638694.1:n.239+4C>T
ENST00000639318.1:c.252+4C>T ENSP00000491932.1:n.252+4C>T
ENST00000639364.1:n.1752+4C>T
ENST00000639443.1:n.1620+4C>T
ENST00000639954.1:n.1760+4C>T
ENST00000640208.1:c.256C>T ENSP00000491895.1:p.Leu86Phe
ENST00000640505.1:n.291+4C>T
ENST00000640592.1:n.1939C>T
ENST00000321612.6:c.2052+4C>T ENSP00000370737.3:n.2052+4C>T
ENST00000460457.1:n.195C>T
NM_000170.2:c.2052+4C>T , LRG_643t1:c.2052+4C>T NP_000161.2:n.2052+4C>T
NM_000170.3:c.2052+4C>T MANE Select NP_000161.2:n.2052+4C>T