Canonical Allele Identifier: CA2689358924
Gene: GLDC HGNC NCBI

Linked Data

gnomAD v4: 9-6565274-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6565274G>A , CM000671.2:g.6565274G>A GRCh38
NC_000009.11:g.6565274G>A , CM000671.1:g.6565274G>A GRCh37
NC_000009.10:g.6555274G>A NCBI36
NG_016397.1:g.85419C>T , LRG_643:g.85419C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000321612.8:c.1926+80C>T MANE Select ENSP00000370737.4:n.1926+80C>T
ENST00000460457.2:n.86+80C>T
ENST00000638233.1:n.361+80C>T
ENST00000638661.1:c.126+80C>T ENSP00000491369.1:n.126+80C>T
ENST00000638694.1:n.113+80C>T
ENST00000639318.1:c.126+80C>T ENSP00000491932.1:n.126+80C>T
ENST00000639364.1:n.1626+80C>T
ENST00000639443.1:n.1494+80C>T
ENST00000639954.1:n.1634+80C>T
ENST00000640208.1:c.126+80C>T ENSP00000491895.1:n.126+80C>T
ENST00000640505.1:n.165+80C>T
ENST00000640592.1:n.1809+80C>T
ENST00000321612.6:c.1926+80C>T ENSP00000370737.3:n.1926+80C>T
ENST00000460457.1:n.65+80C>T
NM_000170.2:c.1926+80C>T , LRG_643t1:c.1926+80C>T NP_000161.2:n.1926+80C>T
NM_000170.3:c.1926+80C>T MANE Select NP_000161.2:n.1926+80C>T