Canonical Allele Identifier: CA653151026
Gene: GLDC HGNC NCBI

Linked Data

dbSNP Id: rs1817687370
gnomAD v4: 9-6558787-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6558787C>A , CM000671.2:g.6558787C>A GRCh38
NC_000009.11:g.6558787C>A , CM000671.1:g.6558787C>A GRCh37
NC_000009.10:g.6548787C>A NCBI36
NG_016397.1:g.91906G>T , LRG_643:g.91906G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.1927-103G>T MANE Select ENSP00000370737.4:n.1927-103G>T
ENST00000460457.2:n.87-103G>T
ENST00000638233.1:n.362-103G>T
ENST00000638661.1:c.127-103G>T ENSP00000491369.1:n.127-103G>T
ENST00000638694.1:n.114-103G>T
ENST00000639318.1:c.127-103G>T ENSP00000491932.1:n.127-103G>T
ENST00000639364.1:n.1627-103G>T
ENST00000639443.1:n.1495-103G>T
ENST00000639954.1:n.1635-103G>T
ENST00000640208.1:c.127-103G>T ENSP00000491895.1:n.127-103G>T
ENST00000640505.1:n.166-103G>T
ENST00000640592.1:n.1810-103G>T
ENST00000321612.6:c.1927-103G>T ENSP00000370737.3:n.1927-103G>T
ENST00000460457.1:n.66-103G>T
NM_000170.2:c.1927-103G>T , LRG_643t1:c.1927-103G>T NP_000161.2:n.1927-103G>T
NM_000170.3:c.1927-103G>T MANE Select NP_000161.2:n.1927-103G>T