Canonical Allele Identifier: CA372882214

Gene: GLDC

Linked Data

• dbSNP Id: rs1817685368
• gnomAD v4: 9-6558677-A-C
• MyVariant Identifiers: chr9:g.6558677A>C (hg19) ; chr9:g.6558677A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558677A>C , CM000671.2:g.6558677A>C	GRCh38
NC_000009.11:g.6558677A>C , CM000671.1:g.6558677A>C	GRCh37
NC_000009.10:g.6548677A>C	NCBI36
NG_016397.1:g.92016T>G , LRG_643:g.92016T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1934T>G MANE Select	ENSP00000370737.4:p.Leu645Arg
ENST00000460457.2:n.94T>G
ENST00000638233.1:n.369T>G
ENST00000638661.1:c.134T>G	ENSP00000491369.1:p.Leu45Arg
ENST00000638694.1:n.121T>G
ENST00000639318.1:c.134T>G	ENSP00000491932.1:p.Leu45Arg
ENST00000639364.1:n.1634T>G
ENST00000639443.1:n.1502T>G
ENST00000639954.1:n.1642T>G
ENST00000640208.1:c.134T>G	ENSP00000491895.1:p.Leu45Arg
ENST00000640505.1:n.173T>G
ENST00000640592.1:n.1817T>G
ENST00000321612.6:c.1934T>G	ENSP00000370737.3:p.Leu645Arg
ENST00000460457.1:n.73T>G
NM_000170.2:c.1934T>G , LRG_643t1:c.1934T>G	NP_000161.2:p.Leu645Arg
NM_000170.3:c.1934T>G MANE Select	NP_000161.2:p.Leu645Arg