Canonical Allele Identifier: CA372894413

Gene: GLDC

Linked Data

• gnomAD v4: 9-6595119-C-A
• MyVariant Identifiers: chr9:g.6595119C>A (hg19) ; chr9:g.6595119C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6595119C>A , CM000671.2:g.6595119C>A	GRCh38
NC_000009.11:g.6595119C>A , CM000671.1:g.6595119C>A	GRCh37
NC_000009.10:g.6585119C>A	NCBI36
NG_016397.1:g.55574G>T , LRG_643:g.55574G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000321612.8:c.1156G>T MANE Select	ENSP00000370737.4:p.Ala386Ser
ENST00000638654.1:c.403G>T	ENSP00000491101.1:p.Ala135Ser
ENST00000639364.1:n.856G>T
ENST00000639443.1:n.724G>T
ENST00000639493.1:n.308G>T
ENST00000639954.1:n.864G>T
ENST00000640592.1:n.1039G>T
ENST00000321612.6:c.1156G>T	ENSP00000370737.3:p.Ala386Ser
ENST00000463305.1:n.240G>T
NM_000170.2:c.1156G>T , LRG_643t1:c.1156G>T	NP_000161.2:p.Ala386Ser
NM_000170.3:c.1156G>T MANE Select	NP_000161.2:p.Ala386Ser