Canonical Allele Identifier: CA463595195

Gene: GLDC

Linked Data

• MyVariant Identifiers: chr9:g.6592947A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6592947A>G , CM000671.2:g.6592947A>G	GRCh38
NC_000009.11:g.6592947A>G , CM000671.1:g.6592947A>G	GRCh37
NC_000009.10:g.6582947A>G	NCBI36
NG_016397.1:g.57746T>C , LRG_643:g.57746T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1305T>C MANE Select	ENSP00000370737.4:p.Phe435=
ENST00000639364.1:n.1005T>C
ENST00000639443.1:n.873T>C
ENST00000639493.1:n.457T>C
ENST00000639954.1:n.1013T>C
ENST00000640592.1:n.1188T>C
ENST00000640703.1:n.148T>C
ENST00000321612.6:c.1305T>C	ENSP00000370737.3:p.Phe435=
ENST00000463305.1:n.389T>C
NM_000170.2:c.1305T>C , LRG_643t1:c.1305T>C	NP_000161.2:p.Phe435=
NM_000170.3:c.1305T>C MANE Select	NP_000161.2:p.Phe435=