Canonical Allele Identifier: CA372881808

Gene: GLDC

Linked Data

• MyVariant Identifiers: chr9:g.6558561T>A (hg19) ; chr9:g.6558561T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558561T>A , CM000671.2:g.6558561T>A	GRCh38
NC_000009.11:g.6558561T>A , CM000671.1:g.6558561T>A	GRCh37
NC_000009.10:g.6548561T>A	NCBI36
NG_016397.1:g.92132A>T , LRG_643:g.92132A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2050A>T MANE Select	ENSP00000370737.4:p.Met684Leu
ENST00000460457.2:n.210A>T
ENST00000638233.1:n.485A>T
ENST00000638661.1:c.250A>T	ENSP00000491369.1:p.Met84Leu
ENST00000638694.1:n.237A>T
ENST00000639318.1:c.250A>T	ENSP00000491932.1:p.Met84Leu
ENST00000639364.1:n.1750A>T
ENST00000639443.1:n.1618A>T
ENST00000639954.1:n.1758A>T
ENST00000640208.1:c.250A>T	ENSP00000491895.1:p.Met84Leu
ENST00000640505.1:n.289A>T
ENST00000640592.1:n.1933A>T
ENST00000321612.6:c.2050A>T	ENSP00000370737.3:p.Met684Leu
ENST00000460457.1:n.189A>T
NM_000170.2:c.2050A>T , LRG_643t1:c.2050A>T	NP_000161.2:p.Met684Leu
NM_000170.3:c.2050A>T MANE Select	NP_000161.2:p.Met684Leu