Canonical Allele Identifier: CA1773116411

Gene: NUGGC

Linked Data

• dbSNP Id: rs1585594277
• gnomAD v3: 8-28065878-A-T
• gnomAD v4: 8-28065878-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.28065878A>T , CM000670.2:g.28065878A>T	GRCh38
NC_000008.10:g.27923395A>T , CM000670.1:g.27923395A>T	GRCh37
NC_000008.9:g.27979314A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000413272.7:c.712-1147T>A MANE Select	ENSP00000408697.2:n.712-1147T>A
ENST00000413272.6:c.712-1147T>A	ENSP00000408697.2:n.712-1147T>A
NM_001010906.1:c.712-1147T>A	NP_001010906.1:n.712-1147T>A
XM_011544523.1:c.784-1147T>A	XP_011542825.1:n.784-1147T>A
XM_011544524.1:c.784-1147T>A	XP_011542826.1:n.784-1147T>A
XM_011544526.1:c.784-1147T>A	XP_011542828.1:n.784-1147T>A
XM_011544523.2:c.784-1147T>A	XP_011542825.1:n.784-1147T>A
XM_011544524.3:c.784-1147T>A	XP_011542826.1:n.784-1147T>A
XM_011544526.2:c.784-1147T>A	XP_011542828.1:n.784-1147T>A
XM_017013403.1:c.784-1147T>A	XP_016868892.1:n.784-1147T>A
NM_001010906.2:c.712-1147T>A MANE Select	NP_001010906.1:n.712-1147T>A