Canonical Allele Identifier: CA2689362357
Gene: GLDC HGNC NCBI

Linked Data

gnomAD v4: 9-6594970-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6594970C>A , CM000671.2:g.6594970C>A GRCh38
NC_000009.11:g.6594970C>A , CM000671.1:g.6594970C>A GRCh37
NC_000009.10:g.6584970C>A NCBI36
NG_016397.1:g.55723G>T , LRG_643:g.55723G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.1261+44G>T MANE Select ENSP00000370737.4:n.1261+44G>T
ENST00000639364.1:n.961+44G>T
ENST00000639443.1:n.829+44G>T
ENST00000639493.1:n.413+44G>T
ENST00000639954.1:n.969+44G>T
ENST00000640592.1:n.1144+44G>T
ENST00000321612.6:c.1261+44G>T ENSP00000370737.3:n.1261+44G>T
ENST00000463305.1:n.345+44G>T
NM_000170.2:c.1261+44G>T , LRG_643t1:c.1261+44G>T NP_000161.2:n.1261+44G>T
NM_000170.3:c.1261+44G>T MANE Select NP_000161.2:n.1261+44G>T