Canonical Allele Identifier: CA1773116487
Gene: NUGGC HGNC NCBI

Linked Data

dbSNP Id: rs1257715987
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.28065987A>T , CM000670.2:g.28065987A>T GRCh38
NC_000008.10:g.27923504A>T , CM000670.1:g.27923504A>T GRCh37
NC_000008.9:g.27979423A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000413272.7:c.712-1256T>A MANE Select ENSP00000408697.2:n.712-1256T>A
ENST00000413272.6:c.712-1256T>A ENSP00000408697.2:n.712-1256T>A
NM_001010906.1:c.712-1256T>A NP_001010906.1:n.712-1256T>A
XM_011544523.1:c.784-1256T>A XP_011542825.1:n.784-1256T>A
XM_011544524.1:c.784-1256T>A XP_011542826.1:n.784-1256T>A
XM_011544526.1:c.784-1256T>A XP_011542828.1:n.784-1256T>A
XM_011544523.2:c.784-1256T>A XP_011542825.1:n.784-1256T>A
XM_011544524.3:c.784-1256T>A XP_011542826.1:n.784-1256T>A
XM_011544526.2:c.784-1256T>A XP_011542828.1:n.784-1256T>A
XM_017013403.1:c.784-1256T>A XP_016868892.1:n.784-1256T>A
NM_001010906.2:c.712-1256T>A MANE Select NP_001010906.1:n.712-1256T>A
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