Canonical Allele Identifier: CA1120883547

Gene: GLDC

Linked Data

• dbSNP Id: rs1817634282
• gnomAD v3: 9-6556499-T-C
• gnomAD v4: 9-6556499-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556499T>C , CM000671.2:g.6556499T>C	GRCh38
NC_000009.11:g.6556499T>C , CM000671.1:g.6556499T>C	GRCh37
NC_000009.10:g.6546499T>C	NCBI36
NG_016397.1:g.94194A>G , LRG_643:g.94194A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2053-197A>G MANE Select	ENSP00000370737.4:n.2053-197A>G
ENST00000638233.1:n.488-197A>G
ENST00000638661.1:c.253-197A>G	ENSP00000491369.1:n.253-197A>G
ENST00000638694.1:n.240-197A>G
ENST00000639318.1:c.253-197A>G	ENSP00000491932.1:n.253-197A>G
ENST00000639364.1:n.1753-197A>G
ENST00000639443.1:n.1621-197A>G
ENST00000639954.1:n.1761-197A>G
ENST00000640505.1:n.292-197A>G
ENST00000321612.6:c.2053-197A>G	ENSP00000370737.3:n.2053-197A>G
NM_000170.2:c.2053-197A>G , LRG_643t1:c.2053-197A>G	NP_000161.2:n.2053-197A>G
NM_000170.3:c.2053-197A>G MANE Select	NP_000161.2:n.2053-197A>G