Canonical Allele Identifier: CA389480112

Gene: NUBPL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.31787814A>C , CM000676.2:g.31787814A>C	GRCh38
NC_000014.8:g.32257020A>C , CM000676.1:g.32257020A>C	GRCh37
NC_000014.7:g.31326771A>C	NCBI36
NG_028349.1:g.231430A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_025152.3:c.548A>C MANE Select	NP_079428.2:p.Asp183Ala
ENST00000281081.12:c.548A>C MANE Select	ENSP00000281081.7:p.Asp183Ala
NM_001201573.1:c.260A>C	NP_001188502.1:p.Asp87Ala
NM_001201573.2:c.260A>C	NP_001188502.1:p.Asp87Ala
NM_001201574.1:c.-2A>C	NP_001188503.1:n.-2A>C
NM_001201574.2:c.-2A>C	NP_001188503.1:n.-2A>C
NM_025152.2:c.548A>C	NP_079428.2:p.Asp183Ala
NR_120408.1:n.569-38815A>C
NR_120408.2:n.550-38815A>C
ENST00000281081.11:c.548A>C	ENSP00000281081.7:p.Asp183Ala
ENST00000418681.6:n.270A>C
ENST00000547839.5:c.514-38815A>C	ENSP00000449918.1:n.514-38815A>C
ENST00000550649.5:c.292-58657A>C	ENSP00000447618.1:n.292-58657A>C
ENST00000551314.1:c.392A>C	ENSP00000447234.1:p.Asp131Ala
XM_005268099.3:c.*48A>C	XP_005268156.1:n.*48A>C
XM_011537181.1:c.233A>C	XP_011535483.1:p.Asp78Ala
XM_011537181.2:c.233A>C	XP_011535483.1:p.Asp78Ala
XM_011537182.1:c.158A>C	XP_011535484.1:p.Asp53Ala
XM_011537182.2:c.158A>C	XP_011535484.1:p.Asp53Ala
XM_011537184.1:c.-2A>C	XP_011535486.1:n.-2A>C
XM_011537184.3:c.-2A>C	XP_011535486.1:n.-2A>C
XM_017021667.1:c.125A>C	XP_016877156.1:p.Asp42Ala