Canonical Allele Identifier: CA585762462

Gene: GLDC

Linked Data

• ClinVar Variation Id: 1660577
• ClinVar RCV Id: RCV002183904
• dbSNP Id: rs775233747
• gnomAD v2: 9-6534692-G-A
• gnomAD v3: 9-6534692-G-A
• gnomAD v4: 9-6534692-G-A
• MyVariant Identifiers: chr9:g.6534692G>A (hg19) ; chr9:g.6534692G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6534692G>A , CM000671.2:g.6534692G>A	GRCh38
NC_000009.11:g.6534692G>A , CM000671.1:g.6534692G>A	GRCh37
NC_000009.10:g.6524692G>A	NCBI36
NG_016397.1:g.116001C>T , LRG_643:g.116001C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000321612.8:c.2919+16C>T MANE Select	ENSP00000370737.4:n.2919+16C>T
ENST00000638233.1:n.1354+16C>T
ENST00000638274.1:c.71+16C>T
ENST00000638661.1:c.1119+16C>T	ENSP00000491369.1:n.1119+16C>T
ENST00000638694.1:n.1106+16C>T
ENST00000639318.1:c.1023+16C>T	ENSP00000491932.1:n.1023+16C>T
ENST00000639364.1:n.2619+16C>T
ENST00000639443.1:n.2487+16C>T
ENST00000639461.1:n.2020+16C>T
ENST00000639639.1:c.621+16C>T	ENSP00000491312.1:n.621+16C>T
ENST00000639954.1:n.2627+16C>T
ENST00000640505.1:n.1158+16C>T
ENST00000321612.6:c.2919+16C>T	ENSP00000370737.3:n.2919+16C>T
ENST00000477960.1:n.500+16C>T
NM_000170.2:c.2919+16C>T , LRG_643t1:c.2919+16C>T	NP_000161.2:n.2919+16C>T
NM_000170.3:c.2919+16C>T MANE Select	NP_000161.2:n.2919+16C>T