Canonical Allele Identifier: CA3236923

Gene: NIPBL

Linked Data

• dbSNP Id: rs139063023
• ExAC: 5:37038868 A / T
• gnomAD v2: 5-37038868-A-T
• gnomAD v3: 5-37038766-A-T
• gnomAD v4: 5-37038766-A-T
• MyVariant Identifiers: chr5:g.37038868A>T (hg19) ; chr5:g.37038766A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37038766A>T , CM000667.2:g.37038766A>T	GRCh38
NC_000005.9:g.37038868A>T , CM000667.1:g.37038868A>T	GRCh37
NC_000005.8:g.37074625A>T	NCBI36
NG_006987.1:g.166884A>T
NG_006987.2:g.166884A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.6108+28A>T MANE Select	ENSP00000282516.8:n.6108+28A>T
ENST00000652901.1:c.6108+28A>T	ENSP00000499536.1:n.6108+28A>T
ENST00000282516.12:c.6108+28A>T	ENSP00000282516.8:n.6108+28A>T
ENST00000448238.2:c.6108+28A>T	ENSP00000406266.2:n.6108+28A>T
ENST00000621733.1:c.1-25812A>T	ENSP00000480694.1:n.1-25812A>T
NM_015384.4:c.6108+28A>T	NP_056199.2:n.6108+28A>T
NM_133433.3:c.6108+28A>T	NP_597677.2:n.6108+28A>T
XM_005248280.2:c.6108+28A>T	XP_005248337.1:n.6108+28A>T
XM_005248282.3:c.5364+28A>T	XP_005248339.2:n.5364+28A>T
XM_006714467.2:c.6108+28A>T	XP_006714530.1:n.6108+28A>T
XM_006714468.1:c.5910+28A>T	XP_006714531.1:n.5910+28A>T
XM_011514014.1:c.5727+28A>T	XP_011512316.1:n.5727+28A>T
XM_011514015.1:c.6108+28A>T	XP_011512317.1:n.6108+28A>T
XM_005248280.3:c.6108+28A>T	XP_005248337.1:n.6108+28A>T
XM_005248282.5:c.5448+28A>T	XP_005248339.3:n.5448+28A>T
XM_006714468.2:c.5910+28A>T	XP_006714531.1:n.5910+28A>T
XM_017009329.1:c.6108+28A>T	XP_016864818.1:n.6108+28A>T
XM_017009330.2:c.4491+28A>T	XP_016864819.1:n.4491+28A>T
XM_017009331.1:c.4482+28A>T	XP_016864820.1:n.4482+28A>T
NM_133433.4:c.6108+28A>T MANE Select	NP_597677.2:n.6108+28A>T
NM_015384.5:c.6108+28A>T	NP_056199.2:n.6108+28A>T