Canonical Allele Identifier: CA1120883519

Gene: GLDC

Linked Data

• dbSNP Id: rs1817631245
• gnomAD v3: 9-6556362-A-C
• gnomAD v4: 9-6556362-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556362A>C , CM000671.2:g.6556362A>C	GRCh38
NC_000009.11:g.6556362A>C , CM000671.1:g.6556362A>C	GRCh37
NC_000009.10:g.6546362A>C	NCBI36
NG_016397.1:g.94331T>G , LRG_643:g.94331T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2053-60T>G MANE Select	ENSP00000370737.4:n.2053-60T>G
ENST00000638233.1:n.488-60T>G
ENST00000638661.1:c.253-60T>G	ENSP00000491369.1:n.253-60T>G
ENST00000638694.1:n.240-60T>G
ENST00000639318.1:c.253-60T>G	ENSP00000491932.1:n.253-60T>G
ENST00000639364.1:n.1753-60T>G
ENST00000639443.1:n.1621-60T>G
ENST00000639954.1:n.1761-60T>G
ENST00000640505.1:n.292-60T>G
ENST00000321612.6:c.2053-60T>G	ENSP00000370737.3:n.2053-60T>G
NM_000170.2:c.2053-60T>G , LRG_643t1:c.2053-60T>G	NP_000161.2:n.2053-60T>G
NM_000170.3:c.2053-60T>G MANE Select	NP_000161.2:n.2053-60T>G