Canonical Allele Identifier: CA463585584

Gene: GLDC

Linked Data

• ClinVar Variation Id: 2134668
• ClinVar RCV Id: RCV003058175
• MyVariant Identifiers: chr9:g.6558562G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558562G>C , CM000671.2:g.6558562G>C	GRCh38
NC_000009.11:g.6558562G>C , CM000671.1:g.6558562G>C	GRCh37
NC_000009.10:g.6548562G>C	NCBI36
NG_016397.1:g.92131C>G , LRG_643:g.92131C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2049C>G MANE Select	ENSP00000370737.4:p.Ala683=
ENST00000460457.2:n.209C>G
ENST00000638233.1:n.484C>G
ENST00000638661.1:c.249C>G	ENSP00000491369.1:p.Ala83=
ENST00000638694.1:n.236C>G
ENST00000639318.1:c.249C>G	ENSP00000491932.1:p.Ala83=
ENST00000639364.1:n.1749C>G
ENST00000639443.1:n.1617C>G
ENST00000639954.1:n.1757C>G
ENST00000640208.1:c.249C>G	ENSP00000491895.1:p.Ala83=
ENST00000640505.1:n.288C>G
ENST00000640592.1:n.1932C>G
ENST00000321612.6:c.2049C>G	ENSP00000370737.3:p.Ala683=
ENST00000460457.1:n.188C>G
NM_000170.2:c.2049C>G , LRG_643t1:c.2049C>G	NP_000161.2:p.Ala683=
NM_000170.3:c.2049C>G MANE Select	NP_000161.2:p.Ala683=