Canonical Allele Identifier: CA2718609513
Gene: GLDC HGNC NCBI

Linked Data

dbSNP Id: rs2129725185
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6555978C>T , CM000671.2:g.6555978C>T GRCh38
NC_000009.11:g.6555978C>T , CM000671.1:g.6555978C>T GRCh37
NC_000009.10:g.6545978C>T NCBI36
NG_016397.1:g.94715G>A , LRG_643:g.94715G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2202+175G>A MANE Select ENSP00000370737.4:n.2202+175G>A
ENST00000638233.1:n.637+175G>A
ENST00000638661.1:c.402+175G>A ENSP00000491369.1:n.402+175G>A
ENST00000638694.1:n.389+175G>A
ENST00000639318.1:c.402+175G>A ENSP00000491932.1:n.402+175G>A
ENST00000639364.1:n.1902+175G>A
ENST00000639443.1:n.1770+175G>A
ENST00000639954.1:n.1910+175G>A
ENST00000640505.1:n.441+175G>A
ENST00000321612.6:c.2202+175G>A ENSP00000370737.3:n.2202+175G>A
NM_000170.2:c.2202+175G>A , LRG_643t1:c.2202+175G>A NP_000161.2:n.2202+175G>A
NM_000170.3:c.2202+175G>A MANE Select NP_000161.2:n.2202+175G>A
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