Canonical Allele Identifier: CA359504236
Gene: NIPBL HGNC NCBI

Linked Data

dbSNP Id: rs1341438329

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37045485A>G , CM000667.2:g.37045485A>G GRCh38
NC_000005.9:g.37045587A>G , CM000667.1:g.37045587A>G GRCh37
NC_000005.8:g.37081344A>G NCBI36
NG_006987.1:g.173603A>G
NG_006987.2:g.173603A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.6386A>G MANE Select ENSP00000282516.8:p.Asn2129Ser
ENST00000652901.1:c.6386A>G ENSP00000499536.1:p.Asn2129Ser
ENST00000282516.12:c.6386A>G ENSP00000282516.8:p.Asn2129Ser
ENST00000448238.2:c.6386A>G ENSP00000406266.2:p.Asn2129Ser
ENST00000621733.1:c.1-19093A>G ENSP00000480694.1:n.1-19093A>G
NM_015384.4:c.6386A>G NP_056199.2:p.Asn2129Ser
NM_133433.3:c.6386A>G NP_597677.2:p.Asn2129Ser
XM_005248280.2:c.6386A>G XP_005248337.1:p.Asn2129Ser
XM_005248282.3:c.5642A>G XP_005248339.2:p.Asn1881Ser
XM_006714467.2:c.6386A>G XP_006714530.1:p.Asn2129Ser
XM_006714468.1:c.6188A>G XP_006714531.1:p.Asn2063Ser
XM_011514014.1:c.6005A>G XP_011512316.1:p.Asn2002Ser
XM_011514015.1:c.6386A>G XP_011512317.1:p.Asn2129Ser
XM_005248280.3:c.6386A>G XP_005248337.1:p.Asn2129Ser
XM_005248282.5:c.5726A>G XP_005248339.3:p.Asn1909Ser
XM_006714468.2:c.6188A>G XP_006714531.1:p.Asn2063Ser
XM_017009329.1:c.6386A>G XP_016864818.1:p.Asn2129Ser
XM_017009330.2:c.4769A>G XP_016864819.1:p.Asn1590Ser
XM_017009331.1:c.4760A>G XP_016864820.1:p.Asn1587Ser
NM_133433.4:c.6386A>G MANE Select NP_597677.2:p.Asn2129Ser
NM_015384.5:c.6386A>G NP_056199.2:p.Asn2129Ser