Canonical Allele Identifier: CA188651623
Gene: GLDC HGNC NCBI

Linked Data

dbSNP Id: rs900739684
gnomAD v3: 9-6558957-A-T
gnomAD v4: 9-6558957-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6558957A>T , CM000671.2:g.6558957A>T GRCh38
NC_000009.11:g.6558957A>T , CM000671.1:g.6558957A>T GRCh37
NC_000009.10:g.6548957A>T NCBI36
NG_016397.1:g.91736T>A , LRG_643:g.91736T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.1927-273T>A MANE Select ENSP00000370737.4:n.1927-273T>A
ENST00000460457.2:n.87-273T>A
ENST00000638233.1:n.362-273T>A
ENST00000638661.1:c.127-273T>A ENSP00000491369.1:n.127-273T>A
ENST00000638694.1:n.114-273T>A
ENST00000639318.1:c.127-273T>A ENSP00000491932.1:n.127-273T>A
ENST00000639364.1:n.1627-273T>A
ENST00000639443.1:n.1495-273T>A
ENST00000639954.1:n.1635-273T>A
ENST00000640208.1:c.127-273T>A ENSP00000491895.1:n.127-273T>A
ENST00000640505.1:n.166-273T>A
ENST00000640592.1:n.1810-273T>A
ENST00000321612.6:c.1927-273T>A ENSP00000370737.3:n.1927-273T>A
ENST00000460457.1:n.66-273T>A
NM_000170.2:c.1927-273T>A , LRG_643t1:c.1927-273T>A NP_000161.2:n.1927-273T>A
NM_000170.3:c.1927-273T>A MANE Select NP_000161.2:n.1927-273T>A