Canonical Allele Identifier: CA4980242

Gene: GLDC

Linked Data

• dbSNP Id: rs754581403
• ExAC: 9:6553427 C / T
• gnomAD v2: 9-6553427-C-T
• gnomAD v3: 9-6553427-C-T
• gnomAD v4: 9-6553427-C-T
• MyVariant Identifiers: chr9:g.6553427C>T (hg19) ; chr9:g.6553427C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6553427C>T , CM000671.2:g.6553427C>T	GRCh38
NC_000009.11:g.6553427C>T , CM000671.1:g.6553427C>T	GRCh37
NC_000009.10:g.6543427C>T	NCBI36
NG_016397.1:g.97266G>A , LRG_643:g.97266G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000321612.8:c.2398G>A MANE Select	ENSP00000370737.4:p.Val800Ile
ENST00000638233.1:n.833G>A
ENST00000638661.1:c.598G>A	ENSP00000491369.1:p.Val200Ile
ENST00000638694.1:n.585G>A
ENST00000639318.1:c.598G>A	ENSP00000491932.1:p.Val200Ile
ENST00000639364.1:n.2098G>A
ENST00000639443.1:n.1966G>A
ENST00000639639.1:c.100G>A	ENSP00000491312.1:p.Val34Ile
ENST00000639954.1:n.2106G>A
ENST00000640505.1:n.637G>A
ENST00000321612.6:c.2398G>A	ENSP00000370737.3:p.Val800Ile
NM_000170.2:c.2398G>A , LRG_643t1:c.2398G>A	NP_000161.2:p.Val800Ile
NM_000170.3:c.2398G>A MANE Select	NP_000161.2:p.Val800Ile