Canonical Allele Identifier: CA370834427
Community Standard Title: NM_001010906.2(NUGGC):c.2031C>G (p.Ile677Met)
Gene: NUGGC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.28029389G>C , CM000670.2:g.28029389G>C GRCh38
NC_000008.10:g.27886906G>C , CM000670.1:g.27886906G>C GRCh37
NC_000008.9:g.27942825G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001010906.2:c.2031C>G MANE Select NP_001010906.1:p.Ile677Met
ENST00000413272.7:c.2031C>G MANE Select ENSP00000408697.2:p.Ile677Met
NM_001010906.1:c.2031C>G NP_001010906.1:p.Ile677Met
ENST00000413272.6:c.2031C>G ENSP00000408697.2:p.Ile677Met
XM_011544523.1:c.2103C>G XP_011542825.1:p.Ile701Met
XM_011544523.2:c.2103C>G XP_011542825.1:p.Ile701Met
XM_011544524.1:c.2103C>G XP_011542826.1:p.Ile701Met
XM_011544524.3:c.2103C>G XP_011542826.1:p.Ile701Met
XM_011544525.1:c.870C>G XP_011542827.1:p.Ile290Met