Canonical Allele Identifier: CA585763374

Gene: GLDC

Linked Data

• ClinVar Variation Id: 1376147
• ClinVar RCV Id: RCV001871201
• dbSNP Id: rs1421593264
• gnomAD v2: 9-6558553-A-G
• gnomAD v4: 9-6558553-A-G
• MyVariant Identifiers: chr9:g.6558553A>G (hg19) ; chr9:g.6558553A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558553A>G , CM000671.2:g.6558553A>G	GRCh38
NC_000009.11:g.6558553A>G , CM000671.1:g.6558553A>G	GRCh37
NC_000009.10:g.6548553A>G	NCBI36
NG_016397.1:g.92140T>C , LRG_643:g.92140T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2052+6T>C MANE Select	ENSP00000370737.4:n.2052+6T>C
ENST00000460457.2:n.212+6T>C
ENST00000638233.1:n.487+6T>C
ENST00000638661.1:c.252+6T>C	ENSP00000491369.1:n.252+6T>C
ENST00000638694.1:n.239+6T>C
ENST00000639318.1:c.252+6T>C	ENSP00000491932.1:n.252+6T>C
ENST00000639364.1:n.1752+6T>C
ENST00000639443.1:n.1620+6T>C
ENST00000639954.1:n.1760+6T>C
ENST00000640208.1:c.258T>C	ENSP00000491895.1:p.Leu86=
ENST00000640505.1:n.291+6T>C
ENST00000640592.1:n.1941T>C
ENST00000321612.6:c.2052+6T>C	ENSP00000370737.3:n.2052+6T>C
ENST00000460457.1:n.197T>C
NM_000170.2:c.2052+6T>C , LRG_643t1:c.2052+6T>C	NP_000161.2:n.2052+6T>C
NM_000170.3:c.2052+6T>C MANE Select	NP_000161.2:n.2052+6T>C