Canonical Allele Identifier: CA4980455
Gene: GLDC HGNC NCBI

Linked Data

ClinVar Variation Id: 254211
dbSNP Id: rs201135624
gnomAD v2: 9-6558671-G-A
gnomAD v3: 9-6558671-G-A
gnomAD v4: 9-6558671-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6558671G>A , CM000671.2:g.6558671G>A GRCh38
NC_000009.11:g.6558671G>A , CM000671.1:g.6558671G>A GRCh37
NC_000009.10:g.6548671G>A NCBI36
NG_016397.1:g.92022C>T , LRG_643:g.92022C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.1940C>T MANE Select ENSP00000370737.4:p.Pro647Leu
ENST00000460457.2:n.100C>T
ENST00000638233.1:n.375C>T
ENST00000638661.1:c.140C>T ENSP00000491369.1:p.Pro47Leu
ENST00000638694.1:n.127C>T
ENST00000639318.1:c.140C>T ENSP00000491932.1:p.Pro47Leu
ENST00000639364.1:n.1640C>T
ENST00000639443.1:n.1508C>T
ENST00000639954.1:n.1648C>T
ENST00000640208.1:c.140C>T ENSP00000491895.1:p.Pro47Leu
ENST00000640505.1:n.179C>T
ENST00000640592.1:n.1823C>T
ENST00000321612.6:c.1940C>T ENSP00000370737.3:p.Pro647Leu
ENST00000460457.1:n.79C>T
NM_000170.2:c.1940C>T , LRG_643t1:c.1940C>T NP_000161.2:p.Pro647Leu
NM_000170.3:c.1940C>T MANE Select NP_000161.2:p.Pro647Leu