Canonical Allele Identifier: CA2673549793
Gene: NIPBL HGNC NCBI

Linked Data

gnomAD v4: 5-36953553-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36953553C>T , CM000667.2:g.36953553C>T GRCh38
NC_000005.9:g.36953655C>T , CM000667.1:g.36953655C>T GRCh37
NC_000005.8:g.36989412C>T NCBI36
NG_006987.1:g.81671C>T
NG_006987.2:g.81671C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.-79-65C>T MANE Select ENSP00000282516.8:n.-79-65C>T
ENST00000652901.1:c.-79-65C>T ENSP00000499536.1:n.-79-65C>T
ENST00000282516.12:c.-79-65C>T ENSP00000282516.8:n.-79-65C>T
ENST00000448238.2:c.-79-65C>T ENSP00000406266.2:n.-79-65C>T
ENST00000621733.1:c.-1+76531C>T ENSP00000480694.1:n.-1+76531C>T
NM_015384.4:c.-79-65C>T NP_056199.2:n.-79-65C>T
NM_133433.3:c.-79-65C>T NP_597677.2:n.-79-65C>T
XM_005248280.2:c.-79-65C>T XP_005248337.1:n.-79-65C>T
XM_006714467.2:c.-79-65C>T XP_006714530.1:n.-79-65C>T
XM_006714468.1:c.-79-65C>T XP_006714531.1:n.-79-65C>T
XM_011514014.1:c.-79-65C>T XP_011512316.1:n.-79-65C>T
XM_011514015.1:c.-79-65C>T XP_011512317.1:n.-79-65C>T
XM_005248280.3:c.-79-65C>T XP_005248337.1:n.-79-65C>T
XM_006714468.2:c.-79-65C>T XP_006714531.1:n.-79-65C>T
XM_017009329.1:c.-79-65C>T XP_016864818.1:n.-79-65C>T
XM_017009331.1:c.-79-65C>T XP_016864820.1:n.-79-65C>T
NM_133433.4:c.-79-65C>T MANE Select NP_597677.2:n.-79-65C>T
NM_015384.5:c.-79-65C>T NP_056199.2:n.-79-65C>T