Canonical Allele Identifier: CA4980661
Gene: GLDC HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.6589230C>T
GRCh37 chr9:g.6589230C>T
gnomAD v2:
9:6589230 C / T
gnomAD v3:
9:6589230 C / T
gnomAD v4:
chr9-6589230-C-T
Joint Max Group AF 0.02950507 (NFE)
Genomes Max Group AF 0.02927784 (NFE)
Exomes Max Group AF 0.02946119 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6589230C>T , CM000671.2:g.6589230C>T GRCh38
NC_000009.11:g.6589230C>T , CM000671.1:g.6589230C>T GRCh37
NC_000009.10:g.6579230C>T NCBI36
NG_016397.1:g.61463G>A , LRG_643:g.61463G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.1545G>A MANE Select ENSP00000370737.4:p.Arg515=
ENST00000639364.1:n.1245G>A
ENST00000639443.1:n.1113G>A
ENST00000639954.1:n.1253G>A
ENST00000640592.1:n.1428G>A
ENST00000321612.6:c.1545G>A ENSP00000370737.3:p.Arg515=
ENST00000463305.1:n.629G>A
NM_000170.2:c.1545G>A , LRG_643t1:c.1545G>A NP_000161.2:p.Arg515=
NM_000170.3:c.1545G>A MANE Select NP_000161.2:p.Arg515=
Search 100 bp 5'
Search 100 bp 3'