Canonical Allele Identifier: CA12720278

Gene: NUGGC

Linked Data

• dbSNP Id: rs4732813
• gnomAD v2: 8-27923551-A-G
• gnomAD v3: 8-28066034-A-G
• gnomAD v4: 8-28066034-A-G
• MyVariant Identifiers: chr8:g.27923551A>G (hg19) ; chr8:g.28066034A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.28066034A>G , CM000670.2:g.28066034A>G	GRCh38
NC_000008.10:g.27923551A>G , CM000670.1:g.27923551A>G	GRCh37
NC_000008.9:g.27979470A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413272.7:c.712-1303T>C MANE Select	ENSP00000408697.2:n.712-1303T>C
ENST00000413272.6:c.712-1303T>C	ENSP00000408697.2:n.712-1303T>C
NM_001010906.1:c.712-1303T>C	NP_001010906.1:n.712-1303T>C
XM_011544523.1:c.784-1303T>C	XP_011542825.1:n.784-1303T>C
XM_011544524.1:c.784-1303T>C	XP_011542826.1:n.784-1303T>C
XM_011544526.1:c.784-1303T>C	XP_011542828.1:n.784-1303T>C
XM_011544523.2:c.784-1303T>C	XP_011542825.1:n.784-1303T>C
XM_011544524.3:c.784-1303T>C	XP_011542826.1:n.784-1303T>C
XM_011544526.2:c.784-1303T>C	XP_011542828.1:n.784-1303T>C
XM_017013403.1:c.784-1303T>C	XP_016868892.1:n.784-1303T>C
NM_001010906.2:c.712-1303T>C MANE Select	NP_001010906.1:n.712-1303T>C