Canonical Allele Identifier: CA443906748
Gene: NIPBL HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.37045588T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37045486T>C , CM000667.2:g.37045486T>C GRCh38
NC_000005.9:g.37045588T>C , CM000667.1:g.37045588T>C GRCh37
NC_000005.8:g.37081345T>C NCBI36
NG_006987.1:g.173604T>C
NG_006987.2:g.173604T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.6387T>C MANE Select ENSP00000282516.8:p.Asn2129=
ENST00000652901.1:c.6387T>C ENSP00000499536.1:p.Asn2129=
ENST00000282516.12:c.6387T>C ENSP00000282516.8:p.Asn2129=
ENST00000448238.2:c.6387T>C ENSP00000406266.2:p.Asn2129=
ENST00000621733.1:c.1-19092T>C ENSP00000480694.1:n.1-19092T>C
NM_015384.4:c.6387T>C NP_056199.2:p.Asn2129=
NM_133433.3:c.6387T>C NP_597677.2:p.Asn2129=
XM_005248280.2:c.6387T>C XP_005248337.1:p.Asn2129=
XM_005248282.3:c.5643T>C XP_005248339.2:p.Asn1881=
XM_006714467.2:c.6387T>C XP_006714530.1:p.Asn2129=
XM_006714468.1:c.6189T>C XP_006714531.1:p.Asn2063=
XM_011514014.1:c.6006T>C XP_011512316.1:p.Asn2002=
XM_011514015.1:c.6387T>C XP_011512317.1:p.Asn2129=
XM_005248280.3:c.6387T>C XP_005248337.1:p.Asn2129=
XM_005248282.5:c.5727T>C XP_005248339.3:p.Asn1909=
XM_006714468.2:c.6189T>C XP_006714531.1:p.Asn2063=
XM_017009329.1:c.6387T>C XP_016864818.1:p.Asn2129=
XM_017009330.2:c.4770T>C XP_016864819.1:p.Asn1590=
XM_017009331.1:c.4761T>C XP_016864820.1:p.Asn1587=
NM_133433.4:c.6387T>C MANE Select NP_597677.2:p.Asn2129=
NM_015384.5:c.6387T>C NP_056199.2:p.Asn2129=