Canonical Allele Identifier: CA865903242

Gene: GLDC

Linked Data

• dbSNP Id: rs1323805869
• gnomAD v3: 9-6556550-TG-T
• gnomAD v4: 9-6556550-TG-T
• MyVariant Identifiers: chr9:g.6556551del (hg19) ; chr9:g.6556551del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556553del , CM000671.2:g.6556553del	GRCh38
NC_000009.11:g.6556553del , CM000671.1:g.6556553del	GRCh37
NC_000009.10:g.6546553del	NCBI36
NG_016397.1:g.94142del , LRG_643:g.94142del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2053-249del MANE Select	ENSP00000370737.4:n.2053-249del
ENST00000638233.1:n.488-249del
ENST00000638661.1:c.253-249del	ENSP00000491369.1:n.253-249del
ENST00000638694.1:n.240-249del
ENST00000639318.1:c.253-249del	ENSP00000491932.1:n.253-249del
ENST00000639364.1:n.1753-249del
ENST00000639443.1:n.1621-249del
ENST00000639954.1:n.1761-249del
ENST00000640505.1:n.292-249del
ENST00000321612.6:c.2053-249del	ENSP00000370737.3:n.2053-249del
NM_000170.2:c.2053-249del , LRG_643t1:c.2053-249del	NP_000161.2:n.2053-249del
NM_000170.3:c.2053-249del MANE Select	NP_000161.2:n.2053-249del