Canonical Allele Identifier: CA117046125

Gene: NIPBL

Linked Data

• dbSNP Id: rs904032626
• gnomAD v2: 5-37045323-G-A
• gnomAD v3: 5-37045221-G-A
• gnomAD v4: 5-37045221-G-A
• MyVariant Identifiers: chr5:g.37045323G>A (hg19) ; chr5:g.37045221G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37045221G>A , CM000667.2:g.37045221G>A	GRCh38
NC_000005.9:g.37045323G>A , CM000667.1:g.37045323G>A	GRCh37
NC_000005.8:g.37081080G>A	NCBI36
NG_006987.1:g.173339G>A
NG_006987.2:g.173339G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6344-222G>A MANE Select	ENSP00000282516.8:n.6344-222G>A
ENST00000652901.1:c.6344-222G>A	ENSP00000499536.1:n.6344-222G>A
ENST00000282516.12:c.6344-222G>A	ENSP00000282516.8:n.6344-222G>A
ENST00000448238.2:c.6344-222G>A	ENSP00000406266.2:n.6344-222G>A
ENST00000621733.1:c.1-19357G>A	ENSP00000480694.1:n.1-19357G>A
NM_015384.4:c.6344-222G>A	NP_056199.2:n.6344-222G>A
NM_133433.3:c.6344-222G>A	NP_597677.2:n.6344-222G>A
XM_005248280.2:c.6344-222G>A	XP_005248337.1:n.6344-222G>A
XM_005248282.3:c.5600-222G>A	XP_005248339.2:n.5600-222G>A
XM_006714467.2:c.6344-222G>A	XP_006714530.1:n.6344-222G>A
XM_006714468.1:c.6146-222G>A	XP_006714531.1:n.6146-222G>A
XM_011514014.1:c.5963-222G>A	XP_011512316.1:n.5963-222G>A
XM_011514015.1:c.6344-222G>A	XP_011512317.1:n.6344-222G>A
XM_005248280.3:c.6344-222G>A	XP_005248337.1:n.6344-222G>A
XM_005248282.5:c.5684-222G>A	XP_005248339.3:n.5684-222G>A
XM_006714468.2:c.6146-222G>A	XP_006714531.1:n.6146-222G>A
XM_017009329.1:c.6344-222G>A	XP_016864818.1:n.6344-222G>A
XM_017009330.2:c.4727-222G>A	XP_016864819.1:n.4727-222G>A
XM_017009331.1:c.4718-222G>A	XP_016864820.1:n.4718-222G>A
NM_133433.4:c.6344-222G>A MANE Select	NP_597677.2:n.6344-222G>A
NM_015384.5:c.6344-222G>A	NP_056199.2:n.6344-222G>A