Canonical Allele Identifier: CA372894383

Gene: GLDC

Linked Data

• MyVariant Identifiers: chr9:g.6595104T>A (hg19) ; chr9:g.6595104T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6595104T>A , CM000671.2:g.6595104T>A	GRCh38
NC_000009.11:g.6595104T>A , CM000671.1:g.6595104T>A	GRCh37
NC_000009.10:g.6585104T>A	NCBI36
NG_016397.1:g.55589A>T , LRG_643:g.55589A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1171A>T MANE Select	ENSP00000370737.4:p.Met391Leu
ENST00000638654.1:c.418A>T	ENSP00000491101.1:p.Met140Leu
ENST00000639364.1:n.871A>T
ENST00000639443.1:n.739A>T
ENST00000639493.1:n.323A>T
ENST00000639954.1:n.879A>T
ENST00000640592.1:n.1054A>T
ENST00000321612.6:c.1171A>T	ENSP00000370737.3:p.Met391Leu
ENST00000463305.1:n.255A>T
NM_000170.2:c.1171A>T , LRG_643t1:c.1171A>T	NP_000161.2:p.Met391Leu
NM_000170.3:c.1171A>T MANE Select	NP_000161.2:p.Met391Leu