Canonical Allele Identifier: CA4980424

Gene: GLDC

Linked Data

• dbSNP Id: rs762405058
• ExAC: 9:6558536 T / C
• gnomAD v2: 9-6558536-T-C
• MyVariant Identifiers: chr9:g.6558536T>C (hg19) ; chr9:g.6558536T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558536T>C , CM000671.2:g.6558536T>C	GRCh38
NC_000009.11:g.6558536T>C , CM000671.1:g.6558536T>C	GRCh37
NC_000009.10:g.6548536T>C	NCBI36
NG_016397.1:g.92157A>G , LRG_643:g.92157A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2052+23A>G MANE Select	ENSP00000370737.4:n.2052+23A>G
ENST00000460457.2:n.212+23A>G
ENST00000638233.1:n.487+23A>G
ENST00000638661.1:c.252+23A>G	ENSP00000491369.1:n.252+23A>G
ENST00000638694.1:n.239+23A>G
ENST00000639318.1:c.252+23A>G	ENSP00000491932.1:n.252+23A>G
ENST00000639364.1:n.1752+23A>G
ENST00000639443.1:n.1620+23A>G
ENST00000639954.1:n.1760+23A>G
ENST00000640208.1:c.275A>G	ENSP00000491895.1:p.Asp92Gly
ENST00000640505.1:n.291+23A>G
ENST00000640592.1:n.1958A>G
ENST00000321612.6:c.2052+23A>G	ENSP00000370737.3:n.2052+23A>G
ENST00000460457.1:n.214A>G
NM_000170.2:c.2052+23A>G , LRG_643t1:c.2052+23A>G	NP_000161.2:n.2052+23A>G
NM_000170.3:c.2052+23A>G MANE Select	NP_000161.2:n.2052+23A>G