Canonical Allele Identifier: CA1830496537
Gene: GLDC HGNC NCBI

Linked Data

dbSNP Id: rs1817686307
gnomAD v4: 9-6558727-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6558727C>T , CM000671.2:g.6558727C>T GRCh38
NC_000009.11:g.6558727C>T , CM000671.1:g.6558727C>T GRCh37
NC_000009.10:g.6548727C>T NCBI36
NG_016397.1:g.91966G>A , LRG_643:g.91966G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.1927-43G>A MANE Select ENSP00000370737.4:n.1927-43G>A
ENST00000460457.2:n.87-43G>A
ENST00000638233.1:n.362-43G>A
ENST00000638661.1:c.127-43G>A ENSP00000491369.1:n.127-43G>A
ENST00000638694.1:n.114-43G>A
ENST00000639318.1:c.127-43G>A ENSP00000491932.1:n.127-43G>A
ENST00000639364.1:n.1627-43G>A
ENST00000639443.1:n.1495-43G>A
ENST00000639954.1:n.1635-43G>A
ENST00000640208.1:c.127-43G>A ENSP00000491895.1:n.127-43G>A
ENST00000640505.1:n.166-43G>A
ENST00000640592.1:n.1810-43G>A
ENST00000321612.6:c.1927-43G>A ENSP00000370737.3:n.1927-43G>A
ENST00000460457.1:n.66-43G>A
NM_000170.2:c.1927-43G>A , LRG_643t1:c.1927-43G>A NP_000161.2:n.1927-43G>A
NM_000170.3:c.1927-43G>A MANE Select NP_000161.2:n.1927-43G>A