Canonical Allele Identifier: CA372882237

Gene: GLDC

Linked Data

• ClinVar Variation Id: 658896
• ClinVar RCV Id: RCV000815807 ; RCV000999128
• dbSNP Id: rs386833535
• MyVariant Identifiers: chr9:g.6558680C>T (hg19) ; chr9:g.6558680C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558680C>T , CM000671.2:g.6558680C>T	GRCh38
NC_000009.11:g.6558680C>T , CM000671.1:g.6558680C>T	GRCh37
NC_000009.10:g.6548680C>T	NCBI36
NG_016397.1:g.92013G>A , LRG_643:g.92013G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1931G>A MANE Select	ENSP00000370737.4:p.Cys644Tyr
ENST00000460457.2:n.91G>A
ENST00000638233.1:n.366G>A
ENST00000638661.1:c.131G>A	ENSP00000491369.1:p.Cys44Tyr
ENST00000638694.1:n.118G>A
ENST00000639318.1:c.131G>A	ENSP00000491932.1:p.Cys44Tyr
ENST00000639364.1:n.1631G>A
ENST00000639443.1:n.1499G>A
ENST00000639954.1:n.1639G>A
ENST00000640208.1:c.131G>A	ENSP00000491895.1:p.Cys44Tyr
ENST00000640505.1:n.170G>A
ENST00000640592.1:n.1814G>A
ENST00000321612.6:c.1931G>A	ENSP00000370737.3:p.Cys644Tyr
ENST00000460457.1:n.70G>A
NM_000170.2:c.1931G>A , LRG_643t1:c.1931G>A	NP_000161.2:p.Cys644Tyr
NM_000170.3:c.1931G>A MANE Select	NP_000161.2:p.Cys644Tyr