Canonical Allele Identifier: CA372894346
Gene: GLDC HGNC NCBI

Linked Data

dbSNP Id: rs1472408730
gnomAD v4: 9-6595086-T-C
MyVariant Identifiers: chr9:g.6595086T>C (hg19) chr9:g.6595086T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6595086T>C , CM000671.2:g.6595086T>C GRCh38
NC_000009.11:g.6595086T>C , CM000671.1:g.6595086T>C GRCh37
NC_000009.10:g.6585086T>C NCBI36
NG_016397.1:g.55607A>G , LRG_643:g.55607A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.1189A>G MANE Select ENSP00000370737.4:p.Ile397Val
ENST00000638654.1:c.436A>G ENSP00000491101.1:p.Ile146Val
ENST00000639364.1:n.889A>G
ENST00000639443.1:n.757A>G
ENST00000639493.1:n.341A>G
ENST00000639954.1:n.897A>G
ENST00000640592.1:n.1072A>G
ENST00000321612.6:c.1189A>G ENSP00000370737.3:p.Ile397Val
ENST00000463305.1:n.273A>G
NM_000170.2:c.1189A>G , LRG_643t1:c.1189A>G NP_000161.2:p.Ile397Val
NM_000170.3:c.1189A>G MANE Select NP_000161.2:p.Ile397Val
Search 100 bp 5'
Search 100 bp 3'