Canonical Allele Identifier: CA4980463
Gene: GLDC HGNC NCBI

Linked Data

dbSNP Id: rs773639908
gnomAD v4: 9-6558716-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6558716A>C , CM000671.2:g.6558716A>C GRCh38
NC_000009.11:g.6558716A>C , CM000671.1:g.6558716A>C GRCh37
NC_000009.10:g.6548716A>C NCBI36
NG_016397.1:g.91977T>G , LRG_643:g.91977T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.1927-32T>G MANE Select ENSP00000370737.4:n.1927-32T>G
ENST00000460457.2:n.87-32T>G
ENST00000638233.1:n.362-32T>G
ENST00000638661.1:c.127-32T>G ENSP00000491369.1:n.127-32T>G
ENST00000638694.1:n.114-32T>G
ENST00000639318.1:c.127-32T>G ENSP00000491932.1:n.127-32T>G
ENST00000639364.1:n.1627-32T>G
ENST00000639443.1:n.1495-32T>G
ENST00000639954.1:n.1635-32T>G
ENST00000640208.1:c.127-32T>G ENSP00000491895.1:n.127-32T>G
ENST00000640505.1:n.166-32T>G
ENST00000640592.1:n.1810-32T>G
ENST00000321612.6:c.1927-32T>G ENSP00000370737.3:n.1927-32T>G
ENST00000460457.1:n.66-32T>G
NM_000170.2:c.1927-32T>G , LRG_643t1:c.1927-32T>G NP_000161.2:n.1927-32T>G
NM_000170.3:c.1927-32T>G MANE Select NP_000161.2:n.1927-32T>G