Canonical Allele Identifier: CA389481821

Gene: NUBPL

Linked Data

• gnomAD v4: 14-31562125-G-C
• MyVariant Identifiers: chr14:g.32031331G>C (hg19) ; chr14:g.31562125G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.31562125G>C , CM000676.2:g.31562125G>C	GRCh38
NC_000014.8:g.32031331G>C , CM000676.1:g.32031331G>C	GRCh37
NC_000014.7:g.31101082G>C	NCBI36
NG_028349.1:g.5741G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000281081.12:c.166G>C MANE Select	ENSP00000281081.7:p.Gly56Arg
ENST00000281081.11:c.166G>C	ENSP00000281081.7:p.Gly56Arg
ENST00000547839.5:c.166G>C	ENSP00000449918.1:p.Gly56Arg
ENST00000548937.5:n.170G>C
ENST00000549838.5:c.130G>C	ENSP00000447658.1:p.Gly44Arg
ENST00000550005.1:c.91G>C	ENSP00000446511.1:p.Gly31Arg
ENST00000550355.1:n.115G>C
ENST00000550649.5:c.166G>C	ENSP00000447618.1:p.Gly56Arg
ENST00000551314.1:c.10G>C	ENSP00000447234.1:p.Gly4Arg
ENST00000552489.5:c.166G>C	ENSP00000447316.1:p.Gly56Arg
NM_025152.2:c.166G>C	NP_079428.2:p.Gly56Arg
NR_120408.1:n.221G>C
XM_005268099.3:c.166G>C	XP_005268156.1:p.Gly56Arg
XM_011537182.1:c.-290G>C	XP_011535484.1:n.-290G>C
XM_011537183.1:c.166G>C	XP_011535485.1:p.Gly56Arg
XM_011537182.2:c.-290G>C	XP_011535484.1:n.-290G>C
XM_011537183.2:c.166G>C	XP_011535485.1:p.Gly56Arg
XM_017021664.1:c.166G>C	XP_016877153.1:p.Gly56Arg
XM_017021665.2:c.166G>C	XP_016877154.1:p.Gly56Arg
XM_017021666.1:c.166G>C	XP_016877155.1:p.Gly56Arg
XM_017021667.1:c.-218G>C	XP_016877156.1:n.-218G>C
NM_025152.3:c.166G>C MANE Select	NP_079428.2:p.Gly56Arg
NR_120408.2:n.202G>C