Canonical Allele Identifier: CA463585664

Gene: GLDC

Linked Data

• ClinVar Variation Id: 2167815
• ClinVar RCV Id: RCV003086637
• dbSNP Id: rs1817684194
• gnomAD v4: 9-6558610-A-G
• MyVariant Identifiers: chr9:g.6558610A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558610A>G , CM000671.2:g.6558610A>G	GRCh38
NC_000009.11:g.6558610A>G , CM000671.1:g.6558610A>G	GRCh37
NC_000009.10:g.6548610A>G	NCBI36
NG_016397.1:g.92083T>C , LRG_643:g.92083T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2001T>C MANE Select	ENSP00000370737.4:p.Pro667=
ENST00000460457.2:n.161T>C
ENST00000638233.1:n.436T>C
ENST00000638661.1:c.201T>C	ENSP00000491369.1:p.Pro67=
ENST00000638694.1:n.188T>C
ENST00000639318.1:c.201T>C	ENSP00000491932.1:p.Pro67=
ENST00000639364.1:n.1701T>C
ENST00000639443.1:n.1569T>C
ENST00000639954.1:n.1709T>C
ENST00000640208.1:c.201T>C	ENSP00000491895.1:p.Pro67=
ENST00000640505.1:n.240T>C
ENST00000640592.1:n.1884T>C
ENST00000321612.6:c.2001T>C	ENSP00000370737.3:p.Pro667=
ENST00000460457.1:n.140T>C
NM_000170.2:c.2001T>C , LRG_643t1:c.2001T>C	NP_000161.2:p.Pro667=
NM_000170.3:c.2001T>C MANE Select	NP_000161.2:p.Pro667=