Canonical Allele Identifier: CA865903219

Gene: GLDC

Linked Data

• dbSNP Id: rs1229168283
• gnomAD v3: 9-6556518-T-TGTGGTG
• gnomAD v4: 9-6556518-T-TGTGGTG
• MyVariant Identifiers: chr9:g.6556518_6556519insGTGGTG (hg19) ; chr9:g.6556518_6556519insGTGGTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556520_6556525dup , CM000671.2:g.6556520_6556525dup	GRCh38
NC_000009.11:g.6556520_6556525dup , CM000671.1:g.6556520_6556525dup	GRCh37
NC_000009.10:g.6546520_6546525dup	NCBI36
NG_016397.1:g.94169_94174dup , LRG_643:g.94169_94174dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2053-222_2053-217dup MANE Select	ENSP00000370737.4:n.2053-222_2053-217dup
ENST00000638233.1:n.488-222_488-217dup
ENST00000638661.1:c.253-222_253-217dup	ENSP00000491369.1:n.253-222_253-217dup
ENST00000638694.1:n.240-222_240-217dup
ENST00000639318.1:c.253-222_253-217dup	ENSP00000491932.1:n.253-222_253-217dup
ENST00000639364.1:n.1753-222_1753-217dup
ENST00000639443.1:n.1621-222_1621-217dup
ENST00000639954.1:n.1761-222_1761-217dup
ENST00000640505.1:n.292-222_292-217dup
ENST00000321612.6:c.2053-222_2053-217dup	ENSP00000370737.3:n.2053-222_2053-217dup
NM_000170.2:c.2053-222_2053-217dup , LRG_643t1:c.2053-222_2053-217dup	NP_000161.2:n.2053-222_2053-217dup
NM_000170.3:c.2053-222_2053-217dup MANE Select	NP_000161.2:n.2053-222_2053-217dup