Canonical Allele Identifier: CA4980377

Gene: GLDC

Linked Data

• dbSNP Id: rs762786233
• ExAC: 9:6556215 A / T
• gnomAD v2: 9-6556215-A-T
• gnomAD v4: 9-6556215-A-T
• MyVariant Identifiers: chr9:g.6556215A>T (hg19) ; chr9:g.6556215A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556215A>T , CM000671.2:g.6556215A>T	GRCh38
NC_000009.11:g.6556215A>T , CM000671.1:g.6556215A>T	GRCh37
NC_000009.10:g.6546215A>T	NCBI36
NG_016397.1:g.94478T>A , LRG_643:g.94478T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000321612.8:c.2140T>A MANE Select	ENSP00000370737.4:p.Cys714Ser
ENST00000638233.1:n.575T>A
ENST00000638661.1:c.340T>A	ENSP00000491369.1:p.Cys114Ser
ENST00000638694.1:n.327T>A
ENST00000639318.1:c.340T>A	ENSP00000491932.1:p.Cys114Ser
ENST00000639364.1:n.1840T>A
ENST00000639443.1:n.1708T>A
ENST00000639954.1:n.1848T>A
ENST00000640505.1:n.379T>A
ENST00000321612.6:c.2140T>A	ENSP00000370737.3:p.Cys714Ser
NM_000170.2:c.2140T>A , LRG_643t1:c.2140T>A	NP_000161.2:p.Cys714Ser
NM_000170.3:c.2140T>A MANE Select	NP_000161.2:p.Cys714Ser