Canonical Allele Identifier: CA4980360

Gene: GLDC

Linked Data

• ClinVar Variation Id: 853927
• ClinVar RCV Id: RCV001058847
• dbSNP Id: rs368418946
• ExAC: 9:6556147 T / C
• gnomAD v2: 9-6556147-T-C
• gnomAD v3: 9-6556147-T-C
• gnomAD v4: 9-6556147-T-C
• MyVariant Identifiers: chr9:g.6556147T>C (hg19) ; chr9:g.6556147T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556147T>C , CM000671.2:g.6556147T>C	GRCh38
NC_000009.11:g.6556147T>C , CM000671.1:g.6556147T>C	GRCh37
NC_000009.10:g.6546147T>C	NCBI36
NG_016397.1:g.94546A>G , LRG_643:g.94546A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2202+6A>G MANE Select	ENSP00000370737.4:n.2202+6A>G
ENST00000638233.1:n.637+6A>G
ENST00000638661.1:c.402+6A>G	ENSP00000491369.1:n.402+6A>G
ENST00000638694.1:n.389+6A>G
ENST00000639318.1:c.402+6A>G	ENSP00000491932.1:n.402+6A>G
ENST00000639364.1:n.1902+6A>G
ENST00000639443.1:n.1770+6A>G
ENST00000639954.1:n.1910+6A>G
ENST00000640505.1:n.441+6A>G
ENST00000321612.6:c.2202+6A>G	ENSP00000370737.3:n.2202+6A>G
NM_000170.2:c.2202+6A>G , LRG_643t1:c.2202+6A>G	NP_000161.2:n.2202+6A>G
NM_000170.3:c.2202+6A>G MANE Select	NP_000161.2:n.2202+6A>G