Canonical Allele Identifier: CA117052721
Gene: NIPBL HGNC NCBI

Linked Data

dbSNP Id: rs993992548
gnomAD v4: 5-36995631-A-C
MyVariant Identifiers: chr5:g.36995733A>C (hg19) chr5:g.36995631A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36995631A>C , CM000667.2:g.36995631A>C GRCh38
NC_000005.9:g.36995733A>C , CM000667.1:g.36995733A>C GRCh37
NC_000005.8:g.37031490A>C NCBI36
NG_006987.1:g.123749A>C
NG_006987.2:g.123749A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.3131A>C MANE Select ENSP00000282516.8:p.Asp1044Ala
ENST00000652901.1:c.3131A>C ENSP00000499536.1:p.Asp1044Ala
ENST00000282516.12:c.3131A>C ENSP00000282516.8:p.Asp1044Ala
ENST00000448238.2:c.3131A>C ENSP00000406266.2:p.Asp1044Ala
ENST00000503274.1:n.482A>C
ENST00000504430.5:n.2751A>C
ENST00000621733.1:c.1-68947A>C ENSP00000480694.1:n.1-68947A>C
NM_015384.4:c.3131A>C NP_056199.2:p.Asp1044Ala
NM_133433.3:c.3131A>C NP_597677.2:p.Asp1044Ala
XM_005248280.2:c.3131A>C XP_005248337.1:p.Asp1044Ala
XM_005248282.3:c.2387A>C XP_005248339.2:p.Asp796Ala
XM_006714467.2:c.3131A>C XP_006714530.1:p.Asp1044Ala
XM_006714468.1:c.3131A>C XP_006714531.1:p.Asp1044Ala
XM_011514014.1:c.3122-5186A>C XP_011512316.1:n.3122-5186A>C
XM_011514015.1:c.3131A>C XP_011512317.1:p.Asp1044Ala
XM_005248280.3:c.3131A>C XP_005248337.1:p.Asp1044Ala
XM_005248282.5:c.2471A>C XP_005248339.3:p.Asp824Ala
XM_006714468.2:c.3131A>C XP_006714531.1:p.Asp1044Ala
XM_017009329.1:c.3131A>C XP_016864818.1:p.Asp1044Ala
XM_017009330.2:c.1514A>C XP_016864819.1:p.Asp505Ala
XM_017009331.1:c.1505A>C XP_016864820.1:p.Asp502Ala
NM_133433.4:c.3131A>C MANE Select NP_597677.2:p.Asp1044Ala
NM_015384.5:c.3131A>C NP_056199.2:p.Asp1044Ala
Search 100 bp 5'
Search 100 bp 3'