Canonical Allele Identifier: CA4980352

Gene: GLDC

Linked Data

• dbSNP Id: rs771652164
• ExAC: 9:6556128 A / G
• gnomAD v2: 9-6556128-A-G
• gnomAD v4: 9-6556128-A-G
• MyVariant Identifiers: chr9:g.6556128A>G (hg19) ; chr9:g.6556128A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556128A>G , CM000671.2:g.6556128A>G	GRCh38
NC_000009.11:g.6556128A>G , CM000671.1:g.6556128A>G	GRCh37
NC_000009.10:g.6546128A>G	NCBI36
NG_016397.1:g.94565T>C , LRG_643:g.94565T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2202+25T>C MANE Select	ENSP00000370737.4:n.2202+25T>C
ENST00000638233.1:n.637+25T>C
ENST00000638661.1:c.402+25T>C	ENSP00000491369.1:n.402+25T>C
ENST00000638694.1:n.389+25T>C
ENST00000639318.1:c.402+25T>C	ENSP00000491932.1:n.402+25T>C
ENST00000639364.1:n.1902+25T>C
ENST00000639443.1:n.1770+25T>C
ENST00000639954.1:n.1910+25T>C
ENST00000640505.1:n.441+25T>C
ENST00000321612.6:c.2202+25T>C	ENSP00000370737.3:n.2202+25T>C
NM_000170.2:c.2202+25T>C , LRG_643t1:c.2202+25T>C	NP_000161.2:n.2202+25T>C
NM_000170.3:c.2202+25T>C MANE Select	NP_000161.2:n.2202+25T>C