Canonical Allele Identifier: CA443901913
Gene: NIPBL HGNC NCBI

Linked Data

dbSNP Id: rs1741197196
gnomAD v4: 5-36958227-A-G
MyVariant Identifiers: chr5:g.36958329A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36958227A>G , CM000667.2:g.36958227A>G GRCh38
NC_000005.9:g.36958329A>G , CM000667.1:g.36958329A>G GRCh37
NC_000005.8:g.36994086A>G NCBI36
NG_006987.1:g.86345A>G
NG_006987.2:g.86345A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.354A>G MANE Select ENSP00000282516.8:p.Gln118=
ENST00000652901.1:c.354A>G ENSP00000499536.1:p.Gln118=
ENST00000282516.12:c.354A>G ENSP00000282516.8:p.Gln118=
ENST00000448238.2:c.354A>G ENSP00000406266.2:p.Gln118=
ENST00000505998.5:n.333A>G
ENST00000621733.1:c.-1+81205A>G ENSP00000480694.1:n.-1+81205A>G
NM_015384.4:c.354A>G NP_056199.2:p.Gln118=
NM_133433.3:c.354A>G NP_597677.2:p.Gln118=
XM_005248280.2:c.354A>G XP_005248337.1:p.Gln118=
XM_006714467.2:c.354A>G XP_006714530.1:p.Gln118=
XM_006714468.1:c.354A>G XP_006714531.1:p.Gln118=
XM_011514014.1:c.354A>G XP_011512316.1:p.Gln118=
XM_011514015.1:c.354A>G XP_011512317.1:p.Gln118=
XM_005248280.3:c.354A>G XP_005248337.1:p.Gln118=
XM_006714468.2:c.354A>G XP_006714531.1:p.Gln118=
XM_017009329.1:c.354A>G XP_016864818.1:p.Gln118=
XM_017009331.1:c.354A>G XP_016864820.1:p.Gln118=
NM_133433.4:c.354A>G MANE Select NP_597677.2:p.Gln118=
NM_015384.5:c.354A>G NP_056199.2:p.Gln118=