Canonical Allele Identifier: CA463585517

Gene: GLDC

Linked Data

• gnomAD v4: 9-6556186-C-T
• MyVariant Identifiers: chr9:g.6556186C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556186C>T , CM000671.2:g.6556186C>T	GRCh38
NC_000009.11:g.6556186C>T , CM000671.1:g.6556186C>T	GRCh37
NC_000009.10:g.6546186C>T	NCBI36
NG_016397.1:g.94507G>A , LRG_643:g.94507G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2169G>A MANE Select	ENSP00000370737.4:p.Gln723=
ENST00000638233.1:n.604G>A
ENST00000638661.1:c.369G>A	ENSP00000491369.1:p.Gln123=
ENST00000638694.1:n.356G>A
ENST00000639318.1:c.369G>A	ENSP00000491932.1:p.Gln123=
ENST00000639364.1:n.1869G>A
ENST00000639443.1:n.1737G>A
ENST00000639954.1:n.1877G>A
ENST00000640505.1:n.408G>A
ENST00000321612.6:c.2169G>A	ENSP00000370737.3:p.Gln723=
NM_000170.2:c.2169G>A , LRG_643t1:c.2169G>A	NP_000161.2:p.Gln723=
NM_000170.3:c.2169G>A MANE Select	NP_000161.2:p.Gln723=