Canonical Allele Identifier: CA463597542

Gene: GLDC

Linked Data

• MyVariant Identifiers: chr9:g.6595111C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6595111C>T , CM000671.2:g.6595111C>T	GRCh38
NC_000009.11:g.6595111C>T , CM000671.1:g.6595111C>T	GRCh37
NC_000009.10:g.6585111C>T	NCBI36
NG_016397.1:g.55582G>A , LRG_643:g.55582G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1164G>A MANE Select	ENSP00000370737.4:p.Leu388=
ENST00000638654.1:c.411G>A	ENSP00000491101.1:p.Leu137=
ENST00000639364.1:n.864G>A
ENST00000639443.1:n.732G>A
ENST00000639493.1:n.316G>A
ENST00000639954.1:n.872G>A
ENST00000640592.1:n.1047G>A
ENST00000321612.6:c.1164G>A	ENSP00000370737.3:p.Leu388=
ENST00000463305.1:n.248G>A
NM_000170.2:c.1164G>A , LRG_643t1:c.1164G>A	NP_000161.2:p.Leu388=
NM_000170.3:c.1164G>A MANE Select	NP_000161.2:p.Leu388=