Canonical Allele Identifier: CA372881804

Gene: GLDC

Linked Data

• gnomAD v4: 9-6558560-A-G
• MyVariant Identifiers: chr9:g.6558560A>G (hg19) ; chr9:g.6558560A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558560A>G , CM000671.2:g.6558560A>G	GRCh38
NC_000009.11:g.6558560A>G , CM000671.1:g.6558560A>G	GRCh37
NC_000009.10:g.6548560A>G	NCBI36
NG_016397.1:g.92133T>C , LRG_643:g.92133T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2051T>C MANE Select	ENSP00000370737.4:p.Met684Thr
ENST00000460457.2:n.211T>C
ENST00000638233.1:n.486T>C
ENST00000638661.1:c.251T>C	ENSP00000491369.1:p.Met84Thr
ENST00000638694.1:n.238T>C
ENST00000639318.1:c.251T>C	ENSP00000491932.1:p.Met84Thr
ENST00000639364.1:n.1751T>C
ENST00000639443.1:n.1619T>C
ENST00000639954.1:n.1759T>C
ENST00000640208.1:c.251T>C	ENSP00000491895.1:p.Met84Thr
ENST00000640505.1:n.290T>C
ENST00000640592.1:n.1934T>C
ENST00000321612.6:c.2051T>C	ENSP00000370737.3:p.Met684Thr
ENST00000460457.1:n.190T>C
NM_000170.2:c.2051T>C , LRG_643t1:c.2051T>C	NP_000161.2:p.Met684Thr
NM_000170.3:c.2051T>C MANE Select	NP_000161.2:p.Met684Thr