Canonical Allele Identifier: CA372881641

Gene: GLDC

Linked Data

• MyVariant Identifiers: chr9:g.6533092C>A (hg19) ; chr9:g.6533092C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6533092C>A , CM000671.2:g.6533092C>A	GRCh38
NC_000009.11:g.6533092C>A , CM000671.1:g.6533092C>A	GRCh37
NC_000009.10:g.6523092C>A	NCBI36
NG_016397.1:g.117601G>T , LRG_643:g.117601G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2988G>T MANE Select	ENSP00000370737.4:p.Gln996His
ENST00000638233.1:n.1423G>T
ENST00000638274.1:c.253G>T
ENST00000638661.1:c.1188G>T	ENSP00000491369.1:p.Gln396His
ENST00000638694.1:n.1175G>T
ENST00000639318.1:c.1092G>T	ENSP00000491932.1:p.Gln364His
ENST00000639364.1:n.2688G>T
ENST00000639443.1:n.2556G>T
ENST00000639461.1:n.2089G>T
ENST00000639639.1:c.690G>T	ENSP00000491312.1:p.Gln230His
ENST00000639954.1:n.2696G>T
ENST00000640505.1:n.1227G>T
ENST00000321612.6:c.2988G>T	ENSP00000370737.3:p.Gln996His
ENST00000477960.1:n.569G>T
NM_000170.2:c.2988G>T , LRG_643t1:c.2988G>T	NP_000161.2:p.Gln996His
NM_000170.3:c.2988G>T MANE Select	NP_000161.2:p.Gln996His