Canonical Allele Identifier: CA4980419

Gene: GLDC

Linked Data

• dbSNP Id: rs769847981
• ExAC: 9:6558528 C / G
• gnomAD v2: 9-6558528-C-G
• gnomAD v4: 9-6558528-C-G
• MyVariant Identifiers: chr9:g.6558528C>G (hg19) ; chr9:g.6558528C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558528C>G , CM000671.2:g.6558528C>G	GRCh38
NC_000009.11:g.6558528C>G , CM000671.1:g.6558528C>G	GRCh37
NC_000009.10:g.6548528C>G	NCBI36
NG_016397.1:g.92165G>C , LRG_643:g.92165G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2052+31G>C MANE Select	ENSP00000370737.4:n.2052+31G>C
ENST00000460457.2:n.212+31G>C
ENST00000638233.1:n.487+31G>C
ENST00000638661.1:c.252+31G>C	ENSP00000491369.1:n.252+31G>C
ENST00000638694.1:n.239+31G>C
ENST00000639318.1:c.252+31G>C	ENSP00000491932.1:n.252+31G>C
ENST00000639364.1:n.1752+31G>C
ENST00000639443.1:n.1620+31G>C
ENST00000639954.1:n.1760+31G>C
ENST00000640208.1:c.283G>C	ENSP00000491895.1:p.Gly95Arg
ENST00000640505.1:n.291+31G>C
ENST00000640592.1:n.1966G>C
ENST00000321612.6:c.2052+31G>C	ENSP00000370737.3:n.2052+31G>C
ENST00000460457.1:n.222G>C
NM_000170.2:c.2052+31G>C , LRG_643t1:c.2052+31G>C	NP_000161.2:n.2052+31G>C
NM_000170.3:c.2052+31G>C MANE Select	NP_000161.2:n.2052+31G>C