Canonical Allele Identifier: CA372881880

Gene: GLDC

Linked Data

• dbSNP Id: rs1563836857
• gnomAD v4: 9-6558597-T-C
• MyVariant Identifiers: chr9:g.6558597T>C (hg19) ; chr9:g.6558597T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558597T>C , CM000671.2:g.6558597T>C	GRCh38
NC_000009.11:g.6558597T>C , CM000671.1:g.6558597T>C	GRCh37
NC_000009.10:g.6548597T>C	NCBI36
NG_016397.1:g.92096A>G , LRG_643:g.92096A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2014A>G MANE Select	ENSP00000370737.4:p.Lys672Glu
ENST00000460457.2:n.174A>G
ENST00000638233.1:n.449A>G
ENST00000638661.1:c.214A>G	ENSP00000491369.1:p.Lys72Glu
ENST00000638694.1:n.201A>G
ENST00000639318.1:c.214A>G	ENSP00000491932.1:p.Lys72Glu
ENST00000639364.1:n.1714A>G
ENST00000639443.1:n.1582A>G
ENST00000639954.1:n.1722A>G
ENST00000640208.1:c.214A>G	ENSP00000491895.1:p.Lys72Glu
ENST00000640505.1:n.253A>G
ENST00000640592.1:n.1897A>G
ENST00000321612.6:c.2014A>G	ENSP00000370737.3:p.Lys672Glu
ENST00000460457.1:n.153A>G
NM_000170.2:c.2014A>G , LRG_643t1:c.2014A>G	NP_000161.2:p.Lys672Glu
NM_000170.3:c.2014A>G MANE Select	NP_000161.2:p.Lys672Glu