Canonical Allele Identifier: CA188651611

Gene: GLDC

Linked Data

• dbSNP Id: rs970788980
• gnomAD v2: 9-6558865-A-G
• gnomAD v3: 9-6558865-A-G
• gnomAD v4: 9-6558865-A-G
• MyVariant Identifiers: chr9:g.6558865A>G (hg19) ; chr9:g.6558865A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558865A>G , CM000671.2:g.6558865A>G	GRCh38
NC_000009.11:g.6558865A>G , CM000671.1:g.6558865A>G	GRCh37
NC_000009.10:g.6548865A>G	NCBI36
NG_016397.1:g.91828T>C , LRG_643:g.91828T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1927-181T>C MANE Select	ENSP00000370737.4:n.1927-181T>C
ENST00000460457.2:n.87-181T>C
ENST00000638233.1:n.362-181T>C
ENST00000638661.1:c.127-181T>C	ENSP00000491369.1:n.127-181T>C
ENST00000638694.1:n.114-181T>C
ENST00000639318.1:c.127-181T>C	ENSP00000491932.1:n.127-181T>C
ENST00000639364.1:n.1627-181T>C
ENST00000639443.1:n.1495-181T>C
ENST00000639954.1:n.1635-181T>C
ENST00000640208.1:c.127-181T>C	ENSP00000491895.1:n.127-181T>C
ENST00000640505.1:n.166-181T>C
ENST00000640592.1:n.1810-181T>C
ENST00000321612.6:c.1927-181T>C	ENSP00000370737.3:n.1927-181T>C
ENST00000460457.1:n.66-181T>C
NM_000170.2:c.1927-181T>C , LRG_643t1:c.1927-181T>C	NP_000161.2:n.1927-181T>C
NM_000170.3:c.1927-181T>C MANE Select	NP_000161.2:n.1927-181T>C