Canonical Allele Identifier: CA2590927072

Gene: GLDC

Linked Data

• dbSNP Id: rs1587925342
• gnomAD v3: 9-6556725-T-C
• gnomAD v4: 9-6556725-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556725T>C , CM000671.2:g.6556725T>C	GRCh38
NC_000009.11:g.6556725T>C , CM000671.1:g.6556725T>C	GRCh37
NC_000009.10:g.6546725T>C	NCBI36
NG_016397.1:g.93968A>G , LRG_643:g.93968A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2053-423A>G MANE Select	ENSP00000370737.4:n.2053-423A>G
ENST00000638233.1:n.488-423A>G
ENST00000638661.1:c.253-423A>G	ENSP00000491369.1:n.253-423A>G
ENST00000638694.1:n.240-423A>G
ENST00000639318.1:c.253-423A>G	ENSP00000491932.1:n.253-423A>G
ENST00000639364.1:n.1753-423A>G
ENST00000639443.1:n.1621-423A>G
ENST00000639954.1:n.1761-423A>G
ENST00000640505.1:n.292-423A>G
ENST00000321612.6:c.2053-423A>G	ENSP00000370737.3:n.2053-423A>G
NM_000170.2:c.2053-423A>G , LRG_643t1:c.2053-423A>G	NP_000161.2:n.2053-423A>G
NM_000170.3:c.2053-423A>G MANE Select	NP_000161.2:n.2053-423A>G