Canonical Allele Identifier: CA13006357

Gene: GLDC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6554380G>A , CM000671.2:g.6554380G>A	GRCh38
NC_000009.11:g.6554380G>A , CM000671.1:g.6554380G>A	GRCh37
NC_000009.10:g.6544380G>A	NCBI36
NG_016397.1:g.96313C>T , LRG_643:g.96313C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000170.3:c.2315+289C>T MANE Select	NP_000161.2:n.2315+289C>T
ENST00000321612.8:c.2315+289C>T MANE Select	ENSP00000370737.4:n.2315+289C>T
NM_000170.2:c.2315+289C>T , LRG_643t1:c.2315+289C>T	NP_000161.2:n.2315+289C>T
ENST00000321612.6:c.2315+289C>T	ENSP00000370737.3:n.2315+289C>T
ENST00000467946.1:n.241+289C>T
ENST00000638233.1:n.750+289C>T
ENST00000638661.1:c.515+289C>T	ENSP00000491369.1:n.515+289C>T
ENST00000638694.1:n.502+289C>T
ENST00000639318.1:c.515+289C>T	ENSP00000491932.1:n.515+289C>T
ENST00000639364.1:n.2015+289C>T
ENST00000639443.1:n.1883+289C>T
ENST00000639639.1:c.17+289C>T	ENSP00000491312.1:n.17+289C>T
ENST00000639954.1:n.2023+289C>T
ENST00000640505.1:n.554+289C>T