Canonical Allele Identifier: CA359475348
Gene: NIPBL HGNC NCBI

Linked Data

gnomAD v4: 5-36958229-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36958229G>C , CM000667.2:g.36958229G>C GRCh38
NC_000005.9:g.36958331G>C , CM000667.1:g.36958331G>C GRCh37
NC_000005.8:g.36994088G>C NCBI36
NG_006987.1:g.86347G>C
NG_006987.2:g.86347G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.356G>C MANE Select ENSP00000282516.8:p.Ser119Thr
ENST00000652901.1:c.356G>C ENSP00000499536.1:p.Ser119Thr
ENST00000282516.12:c.356G>C ENSP00000282516.8:p.Ser119Thr
ENST00000448238.2:c.356G>C ENSP00000406266.2:p.Ser119Thr
ENST00000505998.5:n.335G>C
ENST00000621733.1:c.-1+81207G>C ENSP00000480694.1:n.-1+81207G>C
NM_015384.4:c.356G>C NP_056199.2:p.Ser119Thr
NM_133433.3:c.356G>C NP_597677.2:p.Ser119Thr
XM_005248280.2:c.356G>C XP_005248337.1:p.Ser119Thr
XM_006714467.2:c.356G>C XP_006714530.1:p.Ser119Thr
XM_006714468.1:c.356G>C XP_006714531.1:p.Ser119Thr
XM_011514014.1:c.356G>C XP_011512316.1:p.Ser119Thr
XM_011514015.1:c.356G>C XP_011512317.1:p.Ser119Thr
XM_005248280.3:c.356G>C XP_005248337.1:p.Ser119Thr
XM_006714468.2:c.356G>C XP_006714531.1:p.Ser119Thr
XM_017009329.1:c.356G>C XP_016864818.1:p.Ser119Thr
XM_017009331.1:c.356G>C XP_016864820.1:p.Ser119Thr
NM_133433.4:c.356G>C MANE Select NP_597677.2:p.Ser119Thr
NM_015384.5:c.356G>C NP_056199.2:p.Ser119Thr