Canonical Allele Identifier: CA2573144487

Gene: GLDC

Linked Data

• ClinVar Variation Id: 1572447
• ClinVar RCV Id: RCV002206125
• dbSNP Id: rs1288374750

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556140C>G , CM000671.2:g.6556140C>G	GRCh38
NC_000009.11:g.6556140C>G , CM000671.1:g.6556140C>G	GRCh37
NC_000009.10:g.6546140C>G	NCBI36
NG_016397.1:g.94553G>C , LRG_643:g.94553G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2202+13G>C MANE Select	ENSP00000370737.4:n.2202+13G>C
ENST00000638233.1:n.637+13G>C
ENST00000638661.1:c.402+13G>C	ENSP00000491369.1:n.402+13G>C
ENST00000638694.1:n.389+13G>C
ENST00000639318.1:c.402+13G>C	ENSP00000491932.1:n.402+13G>C
ENST00000639364.1:n.1902+13G>C
ENST00000639443.1:n.1770+13G>C
ENST00000639954.1:n.1910+13G>C
ENST00000640505.1:n.441+13G>C
ENST00000321612.6:c.2202+13G>C	ENSP00000370737.3:n.2202+13G>C
NM_000170.2:c.2202+13G>C , LRG_643t1:c.2202+13G>C	NP_000161.2:n.2202+13G>C
NM_000170.3:c.2202+13G>C MANE Select	NP_000161.2:n.2202+13G>C