Canonical Allele Identifier: CA372881893

Gene: GLDC

Linked Data

• ClinVar Variation Id: 1516810
• ClinVar RCV Id: RCV002040937
• dbSNP Id: rs767864486
• MyVariant Identifiers: chr9:g.6558603C>G (hg19) ; chr9:g.6558603C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558603C>G , CM000671.2:g.6558603C>G	GRCh38
NC_000009.11:g.6558603C>G , CM000671.1:g.6558603C>G	GRCh37
NC_000009.10:g.6548603C>G	NCBI36
NG_016397.1:g.92090G>C , LRG_643:g.92090G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2008G>C MANE Select	ENSP00000370737.4:p.Val670Leu
ENST00000460457.2:n.168G>C
ENST00000638233.1:n.443G>C
ENST00000638661.1:c.208G>C	ENSP00000491369.1:p.Val70Leu
ENST00000638694.1:n.195G>C
ENST00000639318.1:c.208G>C	ENSP00000491932.1:p.Val70Leu
ENST00000639364.1:n.1708G>C
ENST00000639443.1:n.1576G>C
ENST00000639954.1:n.1716G>C
ENST00000640208.1:c.208G>C	ENSP00000491895.1:p.Val70Leu
ENST00000640505.1:n.247G>C
ENST00000640592.1:n.1891G>C
ENST00000321612.6:c.2008G>C	ENSP00000370737.3:p.Val670Leu
ENST00000460457.1:n.147G>C
NM_000170.2:c.2008G>C , LRG_643t1:c.2008G>C	NP_000161.2:p.Val670Leu
NM_000170.3:c.2008G>C MANE Select	NP_000161.2:p.Val670Leu