Canonical Allele Identifier: CA810292133
Gene: NIPBL HGNC NCBI

Linked Data

dbSNP Id: rs1360186025
gnomAD v3: 5-36953604-T-C
gnomAD v4: 5-36953604-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36953604T>C , CM000667.2:g.36953604T>C GRCh38
NC_000005.9:g.36953706T>C , CM000667.1:g.36953706T>C GRCh37
NC_000005.8:g.36989463T>C NCBI36
NG_006987.1:g.81722T>C
NG_006987.2:g.81722T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.-79-14T>C MANE Select ENSP00000282516.8:n.-79-14T>C
ENST00000652901.1:c.-79-14T>C ENSP00000499536.1:n.-79-14T>C
ENST00000282516.12:c.-79-14T>C ENSP00000282516.8:n.-79-14T>C
ENST00000448238.2:c.-79-14T>C ENSP00000406266.2:n.-79-14T>C
ENST00000621733.1:c.-1+76582T>C ENSP00000480694.1:n.-1+76582T>C
NM_015384.4:c.-79-14T>C NP_056199.2:n.-79-14T>C
NM_133433.3:c.-79-14T>C NP_597677.2:n.-79-14T>C
XM_005248280.2:c.-79-14T>C XP_005248337.1:n.-79-14T>C
XM_006714467.2:c.-79-14T>C XP_006714530.1:n.-79-14T>C
XM_006714468.1:c.-79-14T>C XP_006714531.1:n.-79-14T>C
XM_011514014.1:c.-79-14T>C XP_011512316.1:n.-79-14T>C
XM_011514015.1:c.-79-14T>C XP_011512317.1:n.-79-14T>C
XM_005248280.3:c.-79-14T>C XP_005248337.1:n.-79-14T>C
XM_006714468.2:c.-79-14T>C XP_006714531.1:n.-79-14T>C
XM_017009329.1:c.-79-14T>C XP_016864818.1:n.-79-14T>C
XM_017009331.1:c.-79-14T>C XP_016864820.1:n.-79-14T>C
NM_133433.4:c.-79-14T>C MANE Select NP_597677.2:n.-79-14T>C
NM_015384.5:c.-79-14T>C NP_056199.2:n.-79-14T>C