Canonical Allele Identifier: CA463585588

Gene: GLDC

Linked Data

• ClinVar Variation Id: 1159033
• ClinVar RCV Id: RCV001502628
• dbSNP Id: rs72695507
• MyVariant Identifiers: chr9:g.6558568G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558568G>A , CM000671.2:g.6558568G>A	GRCh38
NC_000009.11:g.6558568G>A , CM000671.1:g.6558568G>A	GRCh37
NC_000009.10:g.6548568G>A	NCBI36
NG_016397.1:g.92125C>T , LRG_643:g.92125C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2043C>T MANE Select	ENSP00000370737.4:p.Leu681=
ENST00000460457.2:n.203C>T
ENST00000638233.1:n.478C>T
ENST00000638661.1:c.243C>T	ENSP00000491369.1:p.Leu81=
ENST00000638694.1:n.230C>T
ENST00000639318.1:c.243C>T	ENSP00000491932.1:p.Leu81=
ENST00000639364.1:n.1743C>T
ENST00000639443.1:n.1611C>T
ENST00000639954.1:n.1751C>T
ENST00000640208.1:c.243C>T	ENSP00000491895.1:p.Leu81=
ENST00000640505.1:n.282C>T
ENST00000640592.1:n.1926C>T
ENST00000321612.6:c.2043C>T	ENSP00000370737.3:p.Leu681=
ENST00000460457.1:n.182C>T
NM_000170.2:c.2043C>T , LRG_643t1:c.2043C>T	NP_000161.2:p.Leu681=
NM_000170.3:c.2043C>T MANE Select	NP_000161.2:p.Leu681=