Canonical Allele Identifier: CA4980431

Gene: GLDC

Linked Data

• ClinVar Variation Id: 1444437
• ClinVar RCV Id: RCV001955904
• dbSNP Id: rs753457618
• ExAC: 9:6558570 G / A
• gnomAD v2: 9-6558570-G-A
• gnomAD v3: 9-6558570-G-A
• gnomAD v4: 9-6558570-G-A
• MyVariant Identifiers: chr9:g.6558570G>A (hg19) ; chr9:g.6558570G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558570G>A , CM000671.2:g.6558570G>A	GRCh38
NC_000009.11:g.6558570G>A , CM000671.1:g.6558570G>A	GRCh37
NC_000009.10:g.6548570G>A	NCBI36
NG_016397.1:g.92123C>T , LRG_643:g.92123C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2041C>T MANE Select	ENSP00000370737.4:p.Leu681Phe
ENST00000460457.2:n.201C>T
ENST00000638233.1:n.476C>T
ENST00000638661.1:c.241C>T	ENSP00000491369.1:p.Leu81Phe
ENST00000638694.1:n.228C>T
ENST00000639318.1:c.241C>T	ENSP00000491932.1:p.Leu81Phe
ENST00000639364.1:n.1741C>T
ENST00000639443.1:n.1609C>T
ENST00000639954.1:n.1749C>T
ENST00000640208.1:c.241C>T	ENSP00000491895.1:p.Leu81Phe
ENST00000640505.1:n.280C>T
ENST00000640592.1:n.1924C>T
ENST00000321612.6:c.2041C>T	ENSP00000370737.3:p.Leu681Phe
ENST00000460457.1:n.180C>T
NM_000170.2:c.2041C>T , LRG_643t1:c.2041C>T	NP_000161.2:p.Leu681Phe
NM_000170.3:c.2041C>T MANE Select	NP_000161.2:p.Leu681Phe