Canonical Allele Identifier: CA372882204

Gene: GLDC

Linked Data

• gnomAD v4: 9-6558675-T-A
• MyVariant Identifiers: chr9:g.6558675T>A (hg19) ; chr9:g.6558675T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558675T>A , CM000671.2:g.6558675T>A	GRCh38
NC_000009.11:g.6558675T>A , CM000671.1:g.6558675T>A	GRCh37
NC_000009.10:g.6548675T>A	NCBI36
NG_016397.1:g.92018A>T , LRG_643:g.92018A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1936A>T MANE Select	ENSP00000370737.4:p.Ile646Phe
ENST00000460457.2:n.96A>T
ENST00000638233.1:n.371A>T
ENST00000638661.1:c.136A>T	ENSP00000491369.1:p.Ile46Phe
ENST00000638694.1:n.123A>T
ENST00000639318.1:c.136A>T	ENSP00000491932.1:p.Ile46Phe
ENST00000639364.1:n.1636A>T
ENST00000639443.1:n.1504A>T
ENST00000639954.1:n.1644A>T
ENST00000640208.1:c.136A>T	ENSP00000491895.1:p.Ile46Phe
ENST00000640505.1:n.175A>T
ENST00000640592.1:n.1819A>T
ENST00000321612.6:c.1936A>T	ENSP00000370737.3:p.Ile646Phe
ENST00000460457.1:n.75A>T
NM_000170.2:c.1936A>T , LRG_643t1:c.1936A>T	NP_000161.2:p.Ile646Phe
NM_000170.3:c.1936A>T MANE Select	NP_000161.2:p.Ile646Phe