Canonical Allele Identifier: CA3235719

Gene: NIPBL

Linked Data

• dbSNP Id: rs760252451
• ExAC: 5:36953774 G / C
• gnomAD v2: 5-36953774-G-C
• gnomAD v3: 5-36953672-G-C
• gnomAD v4: 5-36953672-G-C
• MyVariant Identifiers: chr5:g.36953774G>C (hg19) ; chr5:g.36953672G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36953672G>C , CM000667.2:g.36953672G>C	GRCh38
NC_000005.9:g.36953774G>C , CM000667.1:g.36953774G>C	GRCh37
NC_000005.8:g.36989531G>C	NCBI36
NG_006987.1:g.81790G>C
NG_006987.2:g.81790G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.-25G>C MANE Select	ENSP00000282516.8:n.-25G>C
ENST00000652901.1:c.-25G>C	ENSP00000499536.1:n.-25G>C
ENST00000282516.12:c.-25G>C	ENSP00000282516.8:n.-25G>C
ENST00000448238.2:c.-25G>C	ENSP00000406266.2:n.-25G>C
ENST00000621733.1:c.-1+76650G>C	ENSP00000480694.1:n.-1+76650G>C
NM_015384.4:c.-25G>C	NP_056199.2:n.-25G>C
NM_133433.3:c.-25G>C	NP_597677.2:n.-25G>C
XM_005248280.2:c.-25G>C	XP_005248337.1:n.-25G>C
XM_006714467.2:c.-25G>C	XP_006714530.1:n.-25G>C
XM_006714468.1:c.-25G>C	XP_006714531.1:n.-25G>C
XM_011514014.1:c.-25G>C	XP_011512316.1:n.-25G>C
XM_011514015.1:c.-25G>C	XP_011512317.1:n.-25G>C
XM_005248280.3:c.-25G>C	XP_005248337.1:n.-25G>C
XM_006714468.2:c.-25G>C	XP_006714531.1:n.-25G>C
XM_017009329.1:c.-25G>C	XP_016864818.1:n.-25G>C
XM_017009331.1:c.-25G>C	XP_016864820.1:n.-25G>C
NM_133433.4:c.-25G>C MANE Select	NP_597677.2:n.-25G>C
NM_015384.5:c.-25G>C	NP_056199.2:n.-25G>C