Canonical Allele Identifier: CA613295219

Gene: NUBPL

Linked Data

• ClinVar Variation Id: 1966117
• ClinVar RCV Id: RCV002711607
• dbSNP Id: rs1302090425
• gnomAD v2: 14-32315813-G-A
• gnomAD v3: 14-31846607-G-A
• gnomAD v4: 14-31846607-G-A
• MyVariant Identifiers: chr14:g.32315813G>A (hg19) ; chr14:g.31846607G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.31846607G>A , CM000676.2:g.31846607G>A	GRCh38
NC_000014.8:g.32315813G>A , CM000676.1:g.32315813G>A	GRCh37
NC_000014.7:g.31385564G>A	NCBI36
NG_028349.1:g.290223G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281081.12:c.814+16G>A MANE Select	ENSP00000281081.7:n.814+16G>A
ENST00000281081.11:c.814+16G>A	ENSP00000281081.7:n.814+16G>A
ENST00000418681.6:n.536+16G>A
ENST00000547839.5:c.*198+16G>A	ENSP00000449918.1:n.*198+16G>A
ENST00000550649.5:c.412+16G>A	ENSP00000447618.1:n.412+16G>A
ENST00000551015.1:n.528+16G>A
ENST00000552888.1:n.2848+16G>A
NM_001201573.1:c.526+16G>A	NP_001188502.1:n.526+16G>A
NM_001201574.1:c.265+16G>A	NP_001188503.1:n.265+16G>A
NM_025152.2:c.814+16G>A	NP_079428.2:n.814+16G>A
NR_120408.1:n.775+16G>A
XM_011537181.1:c.499+16G>A	XP_011535483.1:n.499+16G>A
XM_011537182.1:c.424+16G>A	XP_011535484.1:n.424+16G>A
XM_011537184.1:c.265+16G>A	XP_011535486.1:n.265+16G>A
XM_011537181.2:c.499+16G>A	XP_011535483.1:n.499+16G>A
XM_011537182.2:c.424+16G>A	XP_011535484.1:n.424+16G>A
XM_011537184.3:c.265+16G>A	XP_011535486.1:n.265+16G>A
XM_017021667.1:c.391+16G>A	XP_016877156.1:n.391+16G>A
NM_025152.3:c.814+16G>A MANE Select	NP_079428.2:n.814+16G>A
NR_120408.2:n.756+16G>A
NM_001201573.2:c.526+16G>A	NP_001188502.1:n.526+16G>A
NM_001201574.2:c.265+16G>A	NP_001188503.1:n.265+16G>A