Canonical Allele Identifier: CA188651593

Gene: GLDC

Linked Data

• dbSNP Id: rs895547481
• MyVariant Identifiers: chr9:g.6558593T>C (hg19) ; chr9:g.6558593T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558593T>C , CM000671.2:g.6558593T>C	GRCh38
NC_000009.11:g.6558593T>C , CM000671.1:g.6558593T>C	GRCh37
NC_000009.10:g.6548593T>C	NCBI36
NG_016397.1:g.92100A>G , LRG_643:g.92100A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2018A>G MANE Select	ENSP00000370737.4:p.Tyr673Cys
ENST00000460457.2:n.178A>G
ENST00000638233.1:n.453A>G
ENST00000638661.1:c.218A>G	ENSP00000491369.1:p.Tyr73Cys
ENST00000638694.1:n.205A>G
ENST00000639318.1:c.218A>G	ENSP00000491932.1:p.Tyr73Cys
ENST00000639364.1:n.1718A>G
ENST00000639443.1:n.1586A>G
ENST00000639954.1:n.1726A>G
ENST00000640208.1:c.218A>G	ENSP00000491895.1:p.Tyr73Cys
ENST00000640505.1:n.257A>G
ENST00000640592.1:n.1901A>G
ENST00000321612.6:c.2018A>G	ENSP00000370737.3:p.Tyr673Cys
ENST00000460457.1:n.157A>G
NM_000170.2:c.2018A>G , LRG_643t1:c.2018A>G	NP_000161.2:p.Tyr673Cys
NM_000170.3:c.2018A>G MANE Select	NP_000161.2:p.Tyr673Cys