Canonical Allele Identifier: CA372893985

Gene: GLDC

Linked Data

• gnomAD v4: 9-6592896-C-G
• MyVariant Identifiers: chr9:g.6592896C>G (hg19) ; chr9:g.6592896C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6592896C>G , CM000671.2:g.6592896C>G	GRCh38
NC_000009.11:g.6592896C>G , CM000671.1:g.6592896C>G	GRCh37
NC_000009.10:g.6582896C>G	NCBI36
NG_016397.1:g.57797G>C , LRG_643:g.57797G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1356G>C MANE Select	ENSP00000370737.4:p.Arg452Ser
ENST00000639364.1:n.1056G>C
ENST00000639443.1:n.924G>C
ENST00000639493.1:n.508G>C
ENST00000639954.1:n.1064G>C
ENST00000640592.1:n.1239G>C
ENST00000640703.1:n.199G>C
ENST00000321612.6:c.1356G>C	ENSP00000370737.3:p.Arg452Ser
ENST00000463305.1:n.440G>C
NM_000170.2:c.1356G>C , LRG_643t1:c.1356G>C	NP_000161.2:p.Arg452Ser
NM_000170.3:c.1356G>C MANE Select	NP_000161.2:p.Arg452Ser