Canonical Allele Identifier: CA372880314

Gene: GLDC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6554726T>A , CM000671.2:g.6554726T>A	GRCh38
NC_000009.11:g.6554726T>A , CM000671.1:g.6554726T>A	GRCh37
NC_000009.10:g.6544726T>A	NCBI36
NG_016397.1:g.95967A>T , LRG_643:g.95967A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000170.3:c.2258A>T MANE Select	NP_000161.2:p.His753Leu
ENST00000321612.8:c.2258A>T MANE Select	ENSP00000370737.4:p.His753Leu
NM_000170.2:c.2258A>T , LRG_643t1:c.2258A>T	NP_000161.2:p.His753Leu
ENST00000321612.6:c.2258A>T	ENSP00000370737.3:p.His753Leu
ENST00000467946.1:n.184A>T
ENST00000638233.1:n.693A>T
ENST00000638661.1:c.458A>T	ENSP00000491369.1:p.His153Leu
ENST00000638694.1:n.445A>T
ENST00000639318.1:c.458A>T	ENSP00000491932.1:p.His153Leu
ENST00000639364.1:n.1958A>T
ENST00000639443.1:n.1826A>T
ENST00000639639.1:c.-41A>T	ENSP00000491312.1:n.-41A>T
ENST00000639954.1:n.1966A>T
ENST00000640505.1:n.497A>T