Canonical Allele Identifier: CA4693285

Gene: NUGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.28023394G>A , CM000670.2:g.28023394G>A	GRCh38
NC_000008.10:g.27880911G>A , CM000670.1:g.27880911G>A	GRCh37
NC_000008.9:g.27936830G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001010906.2:c.2314C>T MANE Select	NP_001010906.1:p.Arg772Trp
ENST00000413272.7:c.2314C>T MANE Select	ENSP00000408697.2:p.Arg772Trp
NM_001010906.1:c.2314C>T	NP_001010906.1:p.Arg772Trp
ENST00000413272.6:c.2314C>T	ENSP00000408697.2:p.Arg772Trp
XM_011544523.1:c.2386C>T	XP_011542825.1:p.Arg796Trp
XM_011544523.2:c.2386C>T	XP_011542825.1:p.Arg796Trp
XM_011544524.1:c.2386C>T	XP_011542826.1:p.Arg796Trp
XM_011544524.3:c.2386C>T	XP_011542826.1:p.Arg796Trp
XM_011544525.1:c.1153C>T	XP_011542827.1:p.Arg385Trp