Canonical Allele Identifier: CA4980448

Gene: GLDC

Linked Data

• dbSNP Id: rs766743130
• ExAC: 9:6558609 C / A
• gnomAD v2: 9-6558609-C-A
• COSMIC: COSM3657733
• MyVariant Identifiers: chr9:g.6558609C>A (hg19) ; chr9:g.6558609C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558609C>A , CM000671.2:g.6558609C>A	GRCh38
NC_000009.11:g.6558609C>A , CM000671.1:g.6558609C>A	GRCh37
NC_000009.10:g.6548609C>A	NCBI36
NG_016397.1:g.92084G>T , LRG_643:g.92084G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2002G>T MANE Select	ENSP00000370737.4:p.Val668Leu
ENST00000460457.2:n.162G>T
ENST00000638233.1:n.437G>T
ENST00000638661.1:c.202G>T	ENSP00000491369.1:p.Val68Leu
ENST00000638694.1:n.189G>T
ENST00000639318.1:c.202G>T	ENSP00000491932.1:p.Val68Leu
ENST00000639364.1:n.1702G>T
ENST00000639443.1:n.1570G>T
ENST00000639954.1:n.1710G>T
ENST00000640208.1:c.202G>T	ENSP00000491895.1:p.Val68Leu
ENST00000640505.1:n.241G>T
ENST00000640592.1:n.1885G>T
ENST00000321612.6:c.2002G>T	ENSP00000370737.3:p.Val668Leu
ENST00000460457.1:n.141G>T
NM_000170.2:c.2002G>T , LRG_643t1:c.2002G>T	NP_000161.2:p.Val668Leu
NM_000170.3:c.2002G>T MANE Select	NP_000161.2:p.Val668Leu