Canonical Allele Identifier: CA4980143

Gene: GLDC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6540123A>T , CM000671.2:g.6540123A>T	GRCh38
NC_000009.11:g.6540123A>T , CM000671.1:g.6540123A>T	GRCh37
NC_000009.10:g.6530123A>T	NCBI36
NG_016397.1:g.110570T>A , LRG_643:g.110570T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000170.3:c.2593T>A MANE Select	NP_000161.2:p.Leu865Met
ENST00000321612.8:c.2593T>A MANE Select	ENSP00000370737.4:p.Leu865Met
NM_000170.2:c.2593T>A , LRG_643t1:c.2593T>A	NP_000161.2:p.Leu865Met
ENST00000321612.6:c.2593T>A	ENSP00000370737.3:p.Leu865Met
ENST00000477960.1:n.57T>A
ENST00000638233.1:n.1028T>A
ENST00000638661.1:c.793T>A	ENSP00000491369.1:p.Leu265Met
ENST00000638694.1:n.780T>A
ENST00000639318.1:c.770-3887T>A	ENSP00000491932.1:n.770-3887T>A
ENST00000639364.1:n.2293T>A
ENST00000639443.1:n.2161T>A
ENST00000639461.1:n.1694T>A
ENST00000639639.1:c.295T>A	ENSP00000491312.1:p.Leu99Met
ENST00000639954.1:n.2301T>A
ENST00000640505.1:n.832T>A