Canonical Allele Identifier: CA372884334

Gene: GLDC

Linked Data

• gnomAD v4: 9-6565362-G-A
• MyVariant Identifiers: chr9:g.6565362G>A (hg19) ; chr9:g.6565362G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6565362G>A , CM000671.2:g.6565362G>A	GRCh38
NC_000009.11:g.6565362G>A , CM000671.1:g.6565362G>A	GRCh37
NC_000009.10:g.6555362G>A	NCBI36
NG_016397.1:g.85331C>T , LRG_643:g.85331C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1918C>T MANE Select	ENSP00000370737.4:p.His640Tyr
ENST00000460457.2:n.78C>T
ENST00000638233.1:n.353C>T
ENST00000638661.1:c.118C>T	ENSP00000491369.1:p.His40Tyr
ENST00000638694.1:n.105C>T
ENST00000639318.1:c.118C>T	ENSP00000491932.1:p.His40Tyr
ENST00000639364.1:n.1618C>T
ENST00000639443.1:n.1486C>T
ENST00000639954.1:n.1626C>T
ENST00000640208.1:c.118C>T	ENSP00000491895.1:p.His40Tyr
ENST00000640505.1:n.157C>T
ENST00000640592.1:n.1801C>T
ENST00000321612.6:c.1918C>T	ENSP00000370737.3:p.His640Tyr
ENST00000460457.1:n.57C>T
NM_000170.2:c.1918C>T , LRG_643t1:c.1918C>T	NP_000161.2:p.His640Tyr
NM_000170.3:c.1918C>T MANE Select	NP_000161.2:p.His640Tyr