Canonical Allele Identifier: CA372879182

Gene: GLDC

Linked Data

• dbSNP Id: rs386833554
• gnomAD v3: 9-6553510-C-G
• gnomAD v4: 9-6553510-C-G
• MyVariant Identifiers: chr9:g.6553510C>G (hg19) ; chr9:g.6553510C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6553510C>G , CM000671.2:g.6553510C>G	GRCh38
NC_000009.11:g.6553510C>G , CM000671.1:g.6553510C>G	GRCh37
NC_000009.10:g.6543510C>G	NCBI36
NG_016397.1:g.97183G>C , LRG_643:g.97183G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000321612.8:c.2316-1G>C MANE Select	ENSP00000370737.4:n.2316-1G>C
ENST00000638233.1:n.751-1G>C
ENST00000638661.1:c.516-1G>C	ENSP00000491369.1:n.516-1G>C
ENST00000638694.1:n.503-1G>C
ENST00000639318.1:c.516-1G>C	ENSP00000491932.1:n.516-1G>C
ENST00000639364.1:n.2016-1G>C
ENST00000639443.1:n.1884-1G>C
ENST00000639639.1:c.18-1G>C	ENSP00000491312.1:n.18-1G>C
ENST00000639954.1:n.2024-1G>C
ENST00000640505.1:n.555-1G>C
ENST00000321612.6:c.2316-1G>C	ENSP00000370737.3:n.2316-1G>C
ENST00000467946.1:n.242-1G>C
NM_000170.2:c.2316-1G>C , LRG_643t1:c.2316-1G>C	NP_000161.2:n.2316-1G>C
NM_000170.3:c.2316-1G>C MANE Select	NP_000161.2:n.2316-1G>C