Canonical Allele Identifier: CA4980086

Gene: GLDC

Linked Data

• ClinVar Variation Id: 367176
• ClinVar RCV Id: RCV000362547 ; RCV000711818 ; RCV001778954
• dbSNP Id: rs144937031
• ExAC: 9:6536172 C / T
• gnomAD v2: 9-6536172-C-T
• gnomAD v3: 9-6536172-C-T
• gnomAD v4: 9-6536172-C-T
• MyVariant Identifiers: chr9:g.6536172C>T (hg19) ; chr9:g.6536172C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6536172C>T , CM000671.2:g.6536172C>T	GRCh38
NC_000009.11:g.6536172C>T , CM000671.1:g.6536172C>T	GRCh37
NC_000009.10:g.6526172C>T	NCBI36
NG_016397.1:g.114521G>A , LRG_643:g.114521G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2730G>A MANE Select	ENSP00000370737.4:p.Ser910=
ENST00000638233.1:n.1165G>A
ENST00000638661.1:c.930G>A	ENSP00000491369.1:p.Ser310=
ENST00000638694.1:n.917G>A
ENST00000639318.1:c.834G>A	ENSP00000491932.1:p.Ser278=
ENST00000639364.1:n.2430G>A
ENST00000639443.1:n.2298G>A
ENST00000639461.1:n.1831G>A
ENST00000639639.1:c.432G>A	ENSP00000491312.1:p.Ser144=
ENST00000639954.1:n.2438G>A
ENST00000640505.1:n.969G>A
ENST00000321612.6:c.2730G>A	ENSP00000370737.3:p.Ser910=
ENST00000477960.1:n.194G>A
NM_000170.2:c.2730G>A , LRG_643t1:c.2730G>A	NP_000161.2:p.Ser910=
NM_000170.3:c.2730G>A MANE Select	NP_000161.2:p.Ser910=