Canonical Allele Identifier: CA372892857
Gene: GLDC HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.6588688G>A
GRCh37 chr9:g.6588688G>A
Revel Score:
ENST00000321612 (MANE Select) 0.784
gnomAD v2:
9:6588688 G / A
gnomAD v4:
chr9-6588688-G-A
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6588688G>A , CM000671.2:g.6588688G>A GRCh38
NC_000009.11:g.6588688G>A , CM000671.1:g.6588688G>A GRCh37
NC_000009.10:g.6578688G>A NCBI36
NG_016397.1:g.62005C>T , LRG_643:g.62005C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.1595C>T MANE Select ENSP00000370737.4:p.Thr532Ile
ENST00000639364.1:n.1295C>T
ENST00000639443.1:n.1163C>T
ENST00000639954.1:n.1303C>T
ENST00000640592.1:n.1478C>T
ENST00000321612.6:c.1595C>T ENSP00000370737.3:p.Thr532Ile
NM_000170.2:c.1595C>T , LRG_643t1:c.1595C>T NP_000161.2:p.Thr532Ile
NM_000170.3:c.1595C>T MANE Select NP_000161.2:p.Thr532Ile
Search 100 bp 5'
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