Canonical Allele Identifier: CA174300972

Gene: NUGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.28033579A>G , CM000670.2:g.28033579A>G	GRCh38
NC_000008.10:g.27891096A>G , CM000670.1:g.27891096A>G	GRCh37
NC_000008.9:g.27947015A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001010906.2:c.1730T>C MANE Select	NP_001010906.1:p.Val577Ala
ENST00000413272.7:c.1730T>C MANE Select	ENSP00000408697.2:p.Val577Ala
NM_001010906.1:c.1730T>C	NP_001010906.1:p.Val577Ala
ENST00000413272.6:c.1730T>C	ENSP00000408697.2:p.Val577Ala
XM_011544523.1:c.1802T>C	XP_011542825.1:p.Val601Ala
XM_011544523.2:c.1802T>C	XP_011542825.1:p.Val601Ala
XM_011544524.1:c.1802T>C	XP_011542826.1:p.Val601Ala
XM_011544524.3:c.1802T>C	XP_011542826.1:p.Val601Ala
XM_011544525.1:c.569T>C	XP_011542827.1:p.Val190Ala