Canonical Allele Identifier: CA174328388

Gene: NUGGC

Linked Data

• dbSNP Id: rs950514803
• gnomAD v2: 8-27923444-G-T
• gnomAD v3: 8-28065927-G-T
• gnomAD v4: 8-28065927-G-T
• MyVariant Identifiers: chr8:g.27923444G>T (hg19) ; chr8:g.28065927G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.28065927G>T , CM000670.2:g.28065927G>T	GRCh38
NC_000008.10:g.27923444G>T , CM000670.1:g.27923444G>T	GRCh37
NC_000008.9:g.27979363G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000413272.7:c.712-1196C>A MANE Select	ENSP00000408697.2:n.712-1196C>A
ENST00000413272.6:c.712-1196C>A	ENSP00000408697.2:n.712-1196C>A
NM_001010906.1:c.712-1196C>A	NP_001010906.1:n.712-1196C>A
XM_011544523.1:c.784-1196C>A	XP_011542825.1:n.784-1196C>A
XM_011544524.1:c.784-1196C>A	XP_011542826.1:n.784-1196C>A
XM_011544526.1:c.784-1196C>A	XP_011542828.1:n.784-1196C>A
XM_011544523.2:c.784-1196C>A	XP_011542825.1:n.784-1196C>A
XM_011544524.3:c.784-1196C>A	XP_011542826.1:n.784-1196C>A
XM_011544526.2:c.784-1196C>A	XP_011542828.1:n.784-1196C>A
XM_017013403.1:c.784-1196C>A	XP_016868892.1:n.784-1196C>A
NM_001010906.2:c.712-1196C>A MANE Select	NP_001010906.1:n.712-1196C>A