Canonical Allele Identifier: CA3236706
Gene: NIPBL HGNC NCBI

Linked Data

dbSNP Id: rs143222832
gnomAD v2: 5-37020725-G-A
gnomAD v3: 5-37020623-G-A
gnomAD v4: 5-37020623-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37020623G>A , CM000667.2:g.37020623G>A GRCh38
NC_000005.9:g.37020725G>A , CM000667.1:g.37020725G>A GRCh37
NC_000005.8:g.37056482G>A NCBI36
NG_006987.1:g.148741G>A
NG_006987.2:g.148741G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.5175G>A MANE Select ENSP00000282516.8:p.Lys1725=
ENST00000652901.1:c.5175G>A ENSP00000499536.1:p.Lys1725=
ENST00000282516.12:c.5175G>A ENSP00000282516.8:p.Lys1725=
ENST00000448238.2:c.5175G>A ENSP00000406266.2:p.Lys1725=
ENST00000621733.1:c.1-43955G>A ENSP00000480694.1:n.1-43955G>A
NM_015384.4:c.5175G>A NP_056199.2:p.Lys1725=
NM_133433.3:c.5175G>A NP_597677.2:p.Lys1725=
XM_005248280.2:c.5175G>A XP_005248337.1:p.Lys1725=
XM_005248282.3:c.4431G>A XP_005248339.2:p.Lys1477=
XM_006714467.2:c.5175G>A XP_006714530.1:p.Lys1725=
XM_006714468.1:c.4977G>A XP_006714531.1:p.Lys1659=
XM_011514014.1:c.4794G>A XP_011512316.1:p.Lys1598=
XM_011514015.1:c.5175G>A XP_011512317.1:p.Lys1725=
XM_005248280.3:c.5175G>A XP_005248337.1:p.Lys1725=
XM_005248282.5:c.4515G>A XP_005248339.3:p.Lys1505=
XM_006714468.2:c.4977G>A XP_006714531.1:p.Lys1659=
XM_017009329.1:c.5175G>A XP_016864818.1:p.Lys1725=
XM_017009330.2:c.3558G>A XP_016864819.1:p.Lys1186=
XM_017009331.1:c.3549G>A XP_016864820.1:p.Lys1183=
NM_133433.4:c.5175G>A MANE Select NP_597677.2:p.Lys1725=
NM_015384.5:c.5175G>A NP_056199.2:p.Lys1725=