Canonical Allele Identifier: CA2689358048
Gene: GLDC HGNC NCBI

Linked Data

gnomAD v4: 9-6556331-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556331A>G , CM000671.2:g.6556331A>G GRCh38
NC_000009.11:g.6556331A>G , CM000671.1:g.6556331A>G GRCh37
NC_000009.10:g.6546331A>G NCBI36
NG_016397.1:g.94362T>C , LRG_643:g.94362T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000321612.8:c.2053-29T>C MANE Select ENSP00000370737.4:n.2053-29T>C
ENST00000638233.1:n.488-29T>C
ENST00000638661.1:c.253-29T>C ENSP00000491369.1:n.253-29T>C
ENST00000638694.1:n.240-29T>C
ENST00000639318.1:c.253-29T>C ENSP00000491932.1:n.253-29T>C
ENST00000639364.1:n.1753-29T>C
ENST00000639443.1:n.1621-29T>C
ENST00000639954.1:n.1761-29T>C
ENST00000640505.1:n.292-29T>C
ENST00000321612.6:c.2053-29T>C ENSP00000370737.3:n.2053-29T>C
NM_000170.2:c.2053-29T>C , LRG_643t1:c.2053-29T>C NP_000161.2:n.2053-29T>C
NM_000170.3:c.2053-29T>C MANE Select NP_000161.2:n.2053-29T>C
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