Canonical Allele Identifier: CA4980773

Gene: GLDC

Linked Data

• dbSNP Id: rs751212361
• ExAC: 9:6593019 C / G
• gnomAD v2: 9-6593019-C-G
• gnomAD v4: 9-6593019-C-G
• MyVariant Identifiers: chr9:g.6593019C>G (hg19) ; chr9:g.6593019C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6593019C>G , CM000671.2:g.6593019C>G	GRCh38
NC_000009.11:g.6593019C>G , CM000671.1:g.6593019C>G	GRCh37
NC_000009.10:g.6583019C>G	NCBI36
NG_016397.1:g.57674G>C , LRG_643:g.57674G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1262-29G>C MANE Select	ENSP00000370737.4:n.1262-29G>C
ENST00000639364.1:n.962-29G>C
ENST00000639443.1:n.830-29G>C
ENST00000639493.1:n.414-29G>C
ENST00000639954.1:n.970-29G>C
ENST00000640592.1:n.1145-29G>C
ENST00000640703.1:n.76G>C
ENST00000321612.6:c.1262-29G>C	ENSP00000370737.3:n.1262-29G>C
ENST00000463305.1:n.346-29G>C
NM_000170.2:c.1262-29G>C , LRG_643t1:c.1262-29G>C	NP_000161.2:n.1262-29G>C
NM_000170.3:c.1262-29G>C MANE Select	NP_000161.2:n.1262-29G>C