Canonical Allele Identifier: CA4693932

Gene: NUGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.28070279A>G , CM000670.2:g.28070279A>G	GRCh38
NC_000008.10:g.27927796A>G , CM000670.1:g.27927796A>G	GRCh37
NC_000008.9:g.27983715A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001010906.2:c.121T>C MANE Select	NP_001010906.1:p.Ser41Pro
ENST00000413272.7:c.121T>C MANE Select	ENSP00000408697.2:p.Ser41Pro
NM_001010906.1:c.121T>C	NP_001010906.1:p.Ser41Pro
ENST00000413272.6:c.121T>C	ENSP00000408697.2:p.Ser41Pro
ENST00000418860.1:c.121T>C	ENSP00000388515.1:p.Ser41Pro
XM_011544523.1:c.121T>C	XP_011542825.1:p.Ser41Pro
XM_011544523.2:c.121T>C	XP_011542825.1:p.Ser41Pro
XM_011544524.1:c.121T>C	XP_011542826.1:p.Ser41Pro
XM_011544524.3:c.121T>C	XP_011542826.1:p.Ser41Pro
XM_011544526.1:c.121T>C	XP_011542828.1:p.Ser41Pro
XM_011544526.2:c.121T>C	XP_011542828.1:p.Ser41Pro
XM_017013403.1:c.121T>C	XP_016868892.1:p.Ser41Pro