Canonical Allele Identifier: CA4980015

Gene: GLDC

Linked Data

• dbSNP Id: rs372931050
• ExAC: 9:6534687 A / G
• gnomAD v2: 9-6534687-A-G
• gnomAD v3: 9-6534687-A-G
• gnomAD v4: 9-6534687-A-G
• MyVariant Identifiers: chr9:g.6534687A>G (hg19) ; chr9:g.6534687A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6534687A>G , CM000671.2:g.6534687A>G	GRCh38
NC_000009.11:g.6534687A>G , CM000671.1:g.6534687A>G	GRCh37
NC_000009.10:g.6524687A>G	NCBI36
NG_016397.1:g.116006T>C , LRG_643:g.116006T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000321612.8:c.2919+21T>C MANE Select	ENSP00000370737.4:n.2919+21T>C
ENST00000638233.1:n.1354+21T>C
ENST00000638274.1:c.71+21T>C
ENST00000638661.1:c.1119+21T>C	ENSP00000491369.1:n.1119+21T>C
ENST00000638694.1:n.1106+21T>C
ENST00000639318.1:c.1023+21T>C	ENSP00000491932.1:n.1023+21T>C
ENST00000639364.1:n.2619+21T>C
ENST00000639443.1:n.2487+21T>C
ENST00000639461.1:n.2020+21T>C
ENST00000639639.1:c.621+21T>C	ENSP00000491312.1:n.621+21T>C
ENST00000639954.1:n.2627+21T>C
ENST00000640505.1:n.1158+21T>C
ENST00000321612.6:c.2919+21T>C	ENSP00000370737.3:n.2919+21T>C
ENST00000477960.1:n.500+21T>C
NM_000170.2:c.2919+21T>C , LRG_643t1:c.2919+21T>C	NP_000161.2:n.2919+21T>C
NM_000170.3:c.2919+21T>C MANE Select	NP_000161.2:n.2919+21T>C