Canonical Allele Identifier: CA4981079

Gene: GLDC

Linked Data

• ClinVar Variation Id: 462888
• ClinVar RCV Id: RCV000528350 ; RCV000992085
• dbSNP Id: rs142181803
• ExAC: 9:6610208 G / C
• gnomAD v2: 9-6610208-G-C
• gnomAD v3: 9-6610208-G-C
• gnomAD v4: 9-6610208-G-C
• MyVariant Identifiers: chr9:g.6610208G>C (hg19) ; chr9:g.6610208G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6610208G>C , CM000671.2:g.6610208G>C	GRCh38
NC_000009.11:g.6610208G>C , CM000671.1:g.6610208G>C	GRCh37
NC_000009.10:g.6600208G>C	NCBI36
NG_016397.1:g.40485C>G , LRG_643:g.40485C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.619C>G MANE Select	ENSP00000370737.4:p.Leu207Val
ENST00000639364.1:n.319C>G
ENST00000639840.1:c.325C>G	ENSP00000491161.1:p.Leu109Val
ENST00000639954.1:n.327C>G
ENST00000640592.1:n.502C>G
ENST00000321612.6:c.619C>G	ENSP00000370737.3:p.Leu207Val
NM_000170.2:c.619C>G , LRG_643t1:c.619C>G	NP_000161.2:p.Leu207Val
NM_000170.3:c.619C>G MANE Select	NP_000161.2:p.Leu207Val