Canonical Allele Identifier: CA372882171

Gene: GLDC

Linked Data

• MyVariant Identifiers: chr9:g.6558669T>G (hg19) ; chr9:g.6558669T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558669T>G , CM000671.2:g.6558669T>G	GRCh38
NC_000009.11:g.6558669T>G , CM000671.1:g.6558669T>G	GRCh37
NC_000009.10:g.6548669T>G	NCBI36
NG_016397.1:g.92024A>C , LRG_643:g.92024A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1942A>C MANE Select	ENSP00000370737.4:p.Lys648Gln
ENST00000460457.2:n.102A>C
ENST00000638233.1:n.377A>C
ENST00000638661.1:c.142A>C	ENSP00000491369.1:p.Lys48Gln
ENST00000638694.1:n.129A>C
ENST00000639318.1:c.142A>C	ENSP00000491932.1:p.Lys48Gln
ENST00000639364.1:n.1642A>C
ENST00000639443.1:n.1510A>C
ENST00000639954.1:n.1650A>C
ENST00000640208.1:c.142A>C	ENSP00000491895.1:p.Lys48Gln
ENST00000640505.1:n.181A>C
ENST00000640592.1:n.1825A>C
ENST00000321612.6:c.1942A>C	ENSP00000370737.3:p.Lys648Gln
ENST00000460457.1:n.81A>C
NM_000170.2:c.1942A>C , LRG_643t1:c.1942A>C	NP_000161.2:p.Lys648Gln
NM_000170.3:c.1942A>C MANE Select	NP_000161.2:p.Lys648Gln