Canonical Allele Identifier: CA2689357386
Gene: GLDC HGNC NCBI

Linked Data

gnomAD v4: 9-6553322-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6553322G>T , CM000671.2:g.6553322G>T GRCh38
NC_000009.11:g.6553322G>T , CM000671.1:g.6553322G>T GRCh37
NC_000009.10:g.6543322G>T NCBI36
NG_016397.1:g.97371C>A , LRG_643:g.97371C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000321612.8:c.2457+46C>A MANE Select ENSP00000370737.4:n.2457+46C>A
ENST00000638233.1:n.892+46C>A
ENST00000638661.1:c.657+46C>A ENSP00000491369.1:n.657+46C>A
ENST00000638694.1:n.644+46C>A
ENST00000639318.1:c.657+46C>A ENSP00000491932.1:n.657+46C>A
ENST00000639364.1:n.2157+46C>A
ENST00000639443.1:n.2025+46C>A
ENST00000639639.1:c.159+46C>A ENSP00000491312.1:n.159+46C>A
ENST00000639954.1:n.2165+46C>A
ENST00000640505.1:n.696+46C>A
ENST00000321612.6:c.2457+46C>A ENSP00000370737.3:n.2457+46C>A
NM_000170.2:c.2457+46C>A , LRG_643t1:c.2457+46C>A NP_000161.2:n.2457+46C>A
NM_000170.3:c.2457+46C>A MANE Select NP_000161.2:n.2457+46C>A