Canonical Allele Identifier: CA258995265

Gene: NUBPL

Linked Data

• dbSNP Id: rs550235145
• gnomAD v3: 14-31624247-G-C
• gnomAD v4: 14-31624247-G-C
• MyVariant Identifiers: chr14:g.32093453G>C (hg19) ; chr14:g.31624247G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.31624247G>C , CM000676.2:g.31624247G>C	GRCh38
NC_000014.8:g.32093453G>C , CM000676.1:g.32093453G>C	GRCh37
NC_000014.7:g.31163204G>C	NCBI36
NG_028349.1:g.67863G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000281081.12:c.382+24868G>C MANE Select	ENSP00000281081.7:n.382+24868G>C
ENST00000281081.11:c.382+24868G>C	ENSP00000281081.7:n.382+24868G>C
ENST00000547839.5:c.382+24868G>C	ENSP00000449918.1:n.382+24868G>C
ENST00000548937.5:n.386+24868G>C
ENST00000549838.5:c.346+24868G>C	ENSP00000447658.1:n.346+24868G>C
ENST00000550355.1:n.331+24868G>C
ENST00000550649.5:c.291+59199G>C	ENSP00000447618.1:n.291+59199G>C
ENST00000551314.1:c.226+24868G>C	ENSP00000447234.1:n.226+24868G>C
ENST00000552489.5:c.476+24868G>C	ENSP00000447316.1:n.476+24868G>C
NM_001201573.1:c.94+24868G>C	NP_001188502.1:n.94+24868G>C
NM_025152.2:c.382+24868G>C	NP_079428.2:n.382+24868G>C
NR_120408.1:n.437+24868G>C
XM_005268099.3:c.382+24868G>C	XP_005268156.1:n.382+24868G>C
XM_011537181.1:c.107+24868G>C	XP_011535483.1:n.107+24868G>C
XM_011537182.1:c.-74+24868G>C	XP_011535484.1:n.-74+24868G>C
XM_011537183.1:c.382+24868G>C	XP_011535485.1:n.382+24868G>C
XM_011537181.2:c.107+24868G>C	XP_011535483.1:n.107+24868G>C
XM_011537182.2:c.-74+24868G>C	XP_011535484.1:n.-74+24868G>C
XM_011537183.2:c.382+24868G>C	XP_011535485.1:n.382+24868G>C
XM_017021664.1:c.382+24868G>C	XP_016877153.1:n.382+24868G>C
XM_017021665.2:c.382+24868G>C	XP_016877154.1:n.382+24868G>C
XM_017021666.1:c.382+24868G>C	XP_016877155.1:n.382+24868G>C
XM_017021667.1:c.-2+24868G>C	XP_016877156.1:n.-2+24868G>C
NM_025152.3:c.382+24868G>C MANE Select	NP_079428.2:n.382+24868G>C
NR_120408.2:n.418+24868G>C
NM_001201573.2:c.94+24868G>C	NP_001188502.1:n.94+24868G>C