Canonical Allele Identifier: CA463585506

Gene: GLDC

Linked Data

• gnomAD v4: 9-6556168-T-G
• MyVariant Identifiers: chr9:g.6556168T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556168T>G , CM000671.2:g.6556168T>G	GRCh38
NC_000009.11:g.6556168T>G , CM000671.1:g.6556168T>G	GRCh37
NC_000009.10:g.6546168T>G	NCBI36
NG_016397.1:g.94525A>C , LRG_643:g.94525A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2187A>C MANE Select	ENSP00000370737.4:p.Ala729=
ENST00000638233.1:n.622A>C
ENST00000638661.1:c.387A>C	ENSP00000491369.1:p.Ala129=
ENST00000638694.1:n.374A>C
ENST00000639318.1:c.387A>C	ENSP00000491932.1:p.Ala129=
ENST00000639364.1:n.1887A>C
ENST00000639443.1:n.1755A>C
ENST00000639954.1:n.1895A>C
ENST00000640505.1:n.426A>C
ENST00000321612.6:c.2187A>C	ENSP00000370737.3:p.Ala729=
NM_000170.2:c.2187A>C , LRG_643t1:c.2187A>C	NP_000161.2:p.Ala729=
NM_000170.3:c.2187A>C MANE Select	NP_000161.2:p.Ala729=