Canonical Allele Identifier: CA1830493717
Gene: GLDC HGNC NCBI

Linked Data

ClinVar Variation Id: 2875210
ClinVar RCV Id: RCV003623992
dbSNP Id: rs1817630634
gnomAD v4: 9-6556319-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556319G>T , CM000671.2:g.6556319G>T GRCh38
NC_000009.11:g.6556319G>T , CM000671.1:g.6556319G>T GRCh37
NC_000009.10:g.6546319G>T NCBI36
NG_016397.1:g.94374C>A , LRG_643:g.94374C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000321612.8:c.2053-17C>A MANE Select ENSP00000370737.4:n.2053-17C>A
ENST00000638233.1:n.488-17C>A
ENST00000638661.1:c.253-17C>A ENSP00000491369.1:n.253-17C>A
ENST00000638694.1:n.240-17C>A
ENST00000639318.1:c.253-17C>A ENSP00000491932.1:n.253-17C>A
ENST00000639364.1:n.1753-17C>A
ENST00000639443.1:n.1621-17C>A
ENST00000639954.1:n.1761-17C>A
ENST00000640505.1:n.292-17C>A
ENST00000321612.6:c.2053-17C>A ENSP00000370737.3:n.2053-17C>A
NM_000170.2:c.2053-17C>A , LRG_643t1:c.2053-17C>A NP_000161.2:n.2053-17C>A
NM_000170.3:c.2053-17C>A MANE Select NP_000161.2:n.2053-17C>A
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