Canonical Allele Identifier: CA1773116420
Gene: NUGGC HGNC NCBI

Linked Data

dbSNP Id: rs1810428592
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.28065895A>G , CM000670.2:g.28065895A>G GRCh38
NC_000008.10:g.27923412A>G , CM000670.1:g.27923412A>G GRCh37
NC_000008.9:g.27979331A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000413272.7:c.712-1164T>C MANE Select ENSP00000408697.2:n.712-1164T>C
ENST00000413272.6:c.712-1164T>C ENSP00000408697.2:n.712-1164T>C
NM_001010906.1:c.712-1164T>C NP_001010906.1:n.712-1164T>C
XM_011544523.1:c.784-1164T>C XP_011542825.1:n.784-1164T>C
XM_011544524.1:c.784-1164T>C XP_011542826.1:n.784-1164T>C
XM_011544526.1:c.784-1164T>C XP_011542828.1:n.784-1164T>C
XM_011544523.2:c.784-1164T>C XP_011542825.1:n.784-1164T>C
XM_011544524.3:c.784-1164T>C XP_011542826.1:n.784-1164T>C
XM_011544526.2:c.784-1164T>C XP_011542828.1:n.784-1164T>C
XM_017013403.1:c.784-1164T>C XP_016868892.1:n.784-1164T>C
NM_001010906.2:c.712-1164T>C MANE Select NP_001010906.1:n.712-1164T>C
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