Canonical Allele Identifier: CA188650865

Gene: GLDC

Linked Data

• dbSNP Id: rs1016500318
• gnomAD v4: 9-6556018-C-A
• MyVariant Identifiers: chr9:g.6556018C>A (hg19) ; chr9:g.6556018C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556018C>A , CM000671.2:g.6556018C>A	GRCh38
NC_000009.11:g.6556018C>A , CM000671.1:g.6556018C>A	GRCh37
NC_000009.10:g.6546018C>A	NCBI36
NG_016397.1:g.94675G>T , LRG_643:g.94675G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2202+135G>T MANE Select	ENSP00000370737.4:n.2202+135G>T
ENST00000638233.1:n.637+135G>T
ENST00000638661.1:c.402+135G>T	ENSP00000491369.1:n.402+135G>T
ENST00000638694.1:n.389+135G>T
ENST00000639318.1:c.402+135G>T	ENSP00000491932.1:n.402+135G>T
ENST00000639364.1:n.1902+135G>T
ENST00000639443.1:n.1770+135G>T
ENST00000639954.1:n.1910+135G>T
ENST00000640505.1:n.441+135G>T
ENST00000321612.6:c.2202+135G>T	ENSP00000370737.3:n.2202+135G>T
NM_000170.2:c.2202+135G>T , LRG_643t1:c.2202+135G>T	NP_000161.2:n.2202+135G>T
NM_000170.3:c.2202+135G>T MANE Select	NP_000161.2:n.2202+135G>T