Canonical Allele Identifier: CA372881903

Gene: GLDC

Linked Data

• MyVariant Identifiers: chr9:g.6558608A>T (hg19) ; chr9:g.6558608A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558608A>T , CM000671.2:g.6558608A>T	GRCh38
NC_000009.11:g.6558608A>T , CM000671.1:g.6558608A>T	GRCh37
NC_000009.10:g.6548608A>T	NCBI36
NG_016397.1:g.92085T>A , LRG_643:g.92085T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2003T>A MANE Select	ENSP00000370737.4:p.Val668Glu
ENST00000460457.2:n.163T>A
ENST00000638233.1:n.438T>A
ENST00000638661.1:c.203T>A	ENSP00000491369.1:p.Val68Glu
ENST00000638694.1:n.190T>A
ENST00000639318.1:c.203T>A	ENSP00000491932.1:p.Val68Glu
ENST00000639364.1:n.1703T>A
ENST00000639443.1:n.1571T>A
ENST00000639954.1:n.1711T>A
ENST00000640208.1:c.203T>A	ENSP00000491895.1:p.Val68Glu
ENST00000640505.1:n.242T>A
ENST00000640592.1:n.1886T>A
ENST00000321612.6:c.2003T>A	ENSP00000370737.3:p.Val668Glu
ENST00000460457.1:n.142T>A
NM_000170.2:c.2003T>A , LRG_643t1:c.2003T>A	NP_000161.2:p.Val668Glu
NM_000170.3:c.2003T>A MANE Select	NP_000161.2:p.Val668Glu