Canonical Allele Identifier: CA174301031
Community Standard Title: NM_001010906.2(NUGGC):c.1678G>C (p.Ala560Pro)
Gene: NUGGC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.28033631C>G , CM000670.2:g.28033631C>G GRCh38
NC_000008.10:g.27891148C>G , CM000670.1:g.27891148C>G GRCh37
NC_000008.9:g.27947067C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001010906.2:c.1678G>C MANE Select NP_001010906.1:p.Ala560Pro
ENST00000413272.7:c.1678G>C MANE Select ENSP00000408697.2:p.Ala560Pro
NM_001010906.1:c.1678G>C NP_001010906.1:p.Ala560Pro
ENST00000413272.6:c.1678G>C ENSP00000408697.2:p.Ala560Pro
XM_011544523.1:c.1750G>C XP_011542825.1:p.Ala584Pro
XM_011544523.2:c.1750G>C XP_011542825.1:p.Ala584Pro
XM_011544524.1:c.1750G>C XP_011542826.1:p.Ala584Pro
XM_011544524.3:c.1750G>C XP_011542826.1:p.Ala584Pro
XM_011544525.1:c.517G>C XP_011542827.1:p.Ala173Pro