Canonical Allele Identifier: CA3235832

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36961602G>A , CM000667.2:g.36961602G>A	GRCh38
NC_000005.9:g.36961704G>A , CM000667.1:g.36961704G>A	GRCh37
NC_000005.8:g.36997461G>A	NCBI36
NG_006987.1:g.89720G>A
NG_006987.2:g.89720G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.458+19G>A MANE Select	ENSP00000282516.8:n.458+19G>A
ENST00000652901.1:c.458+19G>A	ENSP00000499536.1:n.458+19G>A
ENST00000282516.12:c.458+19G>A	ENSP00000282516.8:n.458+19G>A
ENST00000448238.2:c.458+19G>A	ENSP00000406266.2:n.458+19G>A
ENST00000504430.5:n.78+19G>A
ENST00000505998.5:n.437+19G>A
ENST00000621733.1:c.-1+84580G>A	ENSP00000480694.1:n.-1+84580G>A
NM_015384.4:c.458+19G>A	NP_056199.2:n.458+19G>A
NM_133433.3:c.458+19G>A	NP_597677.2:n.458+19G>A
XM_005248280.2:c.458+19G>A	XP_005248337.1:n.458+19G>A
XM_006714467.2:c.458+19G>A	XP_006714530.1:n.458+19G>A
XM_006714468.1:c.458+19G>A	XP_006714531.1:n.458+19G>A
XM_011514014.1:c.458+19G>A	XP_011512316.1:n.458+19G>A
XM_011514015.1:c.458+19G>A	XP_011512317.1:n.458+19G>A
XM_005248280.3:c.458+19G>A	XP_005248337.1:n.458+19G>A
XM_006714468.2:c.458+19G>A	XP_006714531.1:n.458+19G>A
XM_017009329.1:c.458+19G>A	XP_016864818.1:n.458+19G>A
XM_017009331.1:c.458+19G>A	XP_016864820.1:n.458+19G>A
NM_133433.4:c.458+19G>A MANE Select	NP_597677.2:n.458+19G>A
NM_015384.5:c.458+19G>A	NP_056199.2:n.458+19G>A