Canonical Allele Identifier: CA372881868

Gene: GLDC

Linked Data

• ClinVar Variation Id: 1452226
• ClinVar RCV Id: RCV001994499
• dbSNP Id: rs774506115
• gnomAD v4: 9-6558592-A-T
• MyVariant Identifiers: chr9:g.6558592A>T (hg19) ; chr9:g.6558592A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558592A>T , CM000671.2:g.6558592A>T	GRCh38
NC_000009.11:g.6558592A>T , CM000671.1:g.6558592A>T	GRCh37
NC_000009.10:g.6548592A>T	NCBI36
NG_016397.1:g.92101T>A , LRG_643:g.92101T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2019T>A MANE Select	ENSP00000370737.4:p.Tyr673Ter
ENST00000460457.2:n.179T>A
ENST00000638233.1:n.454T>A
ENST00000638661.1:c.219T>A	ENSP00000491369.1:p.Tyr73Ter
ENST00000638694.1:n.206T>A
ENST00000639318.1:c.219T>A	ENSP00000491932.1:p.Tyr73Ter
ENST00000639364.1:n.1719T>A
ENST00000639443.1:n.1587T>A
ENST00000639954.1:n.1727T>A
ENST00000640208.1:c.219T>A	ENSP00000491895.1:p.Tyr73Ter
ENST00000640505.1:n.258T>A
ENST00000640592.1:n.1902T>A
ENST00000321612.6:c.2019T>A	ENSP00000370737.3:p.Tyr673Ter
ENST00000460457.1:n.158T>A
NM_000170.2:c.2019T>A , LRG_643t1:c.2019T>A	NP_000161.2:p.Tyr673Ter
NM_000170.3:c.2019T>A MANE Select	NP_000161.2:p.Tyr673Ter