Canonical Allele Identifier: CA463585650

Gene: GLDC

Linked Data

• dbSNP Id: rs1817684100
• gnomAD v4: 9-6558607-C-A
• MyVariant Identifiers: chr9:g.6558607C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558607C>A , CM000671.2:g.6558607C>A	GRCh38
NC_000009.11:g.6558607C>A , CM000671.1:g.6558607C>A	GRCh37
NC_000009.10:g.6548607C>A	NCBI36
NG_016397.1:g.92086G>T , LRG_643:g.92086G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2004G>T MANE Select	ENSP00000370737.4:p.Val668=
ENST00000460457.2:n.164G>T
ENST00000638233.1:n.439G>T
ENST00000638661.1:c.204G>T	ENSP00000491369.1:p.Val68=
ENST00000638694.1:n.191G>T
ENST00000639318.1:c.204G>T	ENSP00000491932.1:p.Val68=
ENST00000639364.1:n.1704G>T
ENST00000639443.1:n.1572G>T
ENST00000639954.1:n.1712G>T
ENST00000640208.1:c.204G>T	ENSP00000491895.1:p.Val68=
ENST00000640505.1:n.243G>T
ENST00000640592.1:n.1887G>T
ENST00000321612.6:c.2004G>T	ENSP00000370737.3:p.Val668=
ENST00000460457.1:n.143G>T
NM_000170.2:c.2004G>T , LRG_643t1:c.2004G>T	NP_000161.2:p.Val668=
NM_000170.3:c.2004G>T MANE Select	NP_000161.2:p.Val668=