Canonical Allele Identifier: CA2579298609
Gene: GLDC HGNC NCBI

Linked Data

gnomAD v4: 9-6595168-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6595168G>T , CM000671.2:g.6595168G>T GRCh38
NC_000009.11:g.6595168G>T , CM000671.1:g.6595168G>T GRCh37
NC_000009.10:g.6585168G>T NCBI36
NG_016397.1:g.55525C>A , LRG_643:g.55525C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.1156-49C>A MANE Select ENSP00000370737.4:n.1156-49C>A
ENST00000638654.1:c.403-49C>A ENSP00000491101.1:n.403-49C>A
ENST00000639364.1:n.856-49C>A
ENST00000639443.1:n.724-49C>A
ENST00000639493.1:n.308-49C>A
ENST00000639954.1:n.864-49C>A
ENST00000640592.1:n.1039-49C>A
ENST00000321612.6:c.1156-49C>A ENSP00000370737.3:n.1156-49C>A
ENST00000463305.1:n.240-49C>A
NM_000170.2:c.1156-49C>A , LRG_643t1:c.1156-49C>A NP_000161.2:n.1156-49C>A
NM_000170.3:c.1156-49C>A MANE Select NP_000161.2:n.1156-49C>A