Canonical Allele Identifier: CA372894214

Gene: GLDC

Linked Data

• MyVariant Identifiers: chr9:g.6595022A>C (hg19) ; chr9:g.6595022A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6595022A>C , CM000671.2:g.6595022A>C	GRCh38
NC_000009.11:g.6595022A>C , CM000671.1:g.6595022A>C	GRCh37
NC_000009.10:g.6585022A>C	NCBI36
NG_016397.1:g.55671T>G , LRG_643:g.55671T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000321612.8:c.1253T>G MANE Select	ENSP00000370737.4:p.Leu418Trp
ENST00000639364.1:n.953T>G
ENST00000639443.1:n.821T>G
ENST00000639493.1:n.405T>G
ENST00000639954.1:n.961T>G
ENST00000640592.1:n.1136T>G
ENST00000321612.6:c.1253T>G	ENSP00000370737.3:p.Leu418Trp
ENST00000463305.1:n.337T>G
NM_000170.2:c.1253T>G , LRG_643t1:c.1253T>G	NP_000161.2:p.Leu418Trp
NM_000170.3:c.1253T>G MANE Select	NP_000161.2:p.Leu418Trp