Canonical Allele Identifier: CA180227
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 167358
dbSNP Id: rs727504045
gnomAD v2: 5-36953840-G-A
gnomAD v3: 5-36953738-G-A
gnomAD v4: 5-36953738-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36953738G>A , CM000667.2:g.36953738G>A GRCh38
NC_000005.9:g.36953840G>A , CM000667.1:g.36953840G>A GRCh37
NC_000005.8:g.36989597G>A NCBI36
NG_006987.1:g.81856G>A
NG_006987.2:g.81856G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.42G>A MANE Select ENSP00000282516.8:p.Ala14=
ENST00000652901.1:c.42G>A ENSP00000499536.1:p.Ala14=
ENST00000282516.12:c.42G>A ENSP00000282516.8:p.Ala14=
ENST00000448238.2:c.42G>A ENSP00000406266.2:p.Ala14=
ENST00000621733.1:c.-1+76716G>A ENSP00000480694.1:n.-1+76716G>A
NM_015384.4:c.42G>A NP_056199.2:p.Ala14=
NM_133433.3:c.42G>A NP_597677.2:p.Ala14=
XM_005248280.2:c.42G>A XP_005248337.1:p.Ala14=
XM_006714467.2:c.42G>A XP_006714530.1:p.Ala14=
XM_006714468.1:c.42G>A XP_006714531.1:p.Ala14=
XM_011514014.1:c.42G>A XP_011512316.1:p.Ala14=
XM_011514015.1:c.42G>A XP_011512317.1:p.Ala14=
XM_005248280.3:c.42G>A XP_005248337.1:p.Ala14=
XM_006714468.2:c.42G>A XP_006714531.1:p.Ala14=
XM_017009329.1:c.42G>A XP_016864818.1:p.Ala14=
XM_017009331.1:c.42G>A XP_016864820.1:p.Ala14=
NM_133433.4:c.42G>A MANE Select NP_597677.2:p.Ala14=
NM_015384.5:c.42G>A NP_056199.2:p.Ala14=