Canonical Allele Identifier: CA8871533

Gene: SMCHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2763679A>G , CM000680.2:g.2763679A>G	GRCh38
NC_000018.9:g.2763677A>G , CM000680.1:g.2763677A>G	GRCh37
NC_000018.8:g.2753677A>G	NCBI36
NG_031972.1:g.112792A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015295.3:c.4609A>G MANE Select	NP_056110.2:p.Ile1537Val
ENST00000320876.11:c.4609A>G MANE Select	ENSP00000326603.7:p.Ile1537Val
NM_015295.2:c.4609A>G	NP_056110.2:p.Ile1537Val
ENST00000320876.10:c.4609A>G	ENSP00000326603.6:p.Ile1537Val
ENST00000577880.5:c.3022A>G	ENSP00000463049.1:p.Ile1008Val
ENST00000583344.1:n.514A>G
ENST00000583344.2:n.514A>G
ENST00000584897.5:c.2429A>G
ENST00000645355.1:c.522A>G
ENST00000685656.1:n.1097A>G
ENST00000686763.1:c.*168A>G	ENSP00000510263.1:n.*168A>G
ENST00000686864.1:c.1371A>G
ENST00000688342.1:c.4477A>G	ENSP00000508422.1:p.Ile1493Val
ENST00000688708.1:n.3265A>G
ENST00000688964.1:n.1309A>G
ENST00000689034.1:n.2556A>G
ENST00000693213.1:n.3807A>G
ENST00000693522.1:n.1150A>G
XM_011525642.1:c.4609A>G	XP_011523944.1:p.Ile1537Val
XM_011525643.1:c.4609A>G	XP_011523945.1:p.Ile1537Val
XM_011525643.2:c.4609A>G	XP_011523945.1:p.Ile1537Val
XM_011525644.1:c.4225A>G	XP_011523946.1:p.Ile1409Val
XM_011525645.1:c.4045A>G	XP_011523947.1:p.Ile1349Val
XM_011525646.1:c.4609A>G	XP_011523948.1:p.Ile1537Val
XM_017025684.1:c.4045A>G	XP_016881173.1:p.Ile1349Val
XR_001753172.1:n.4798A>G
XR_001753173.1:n.4798A>G
XR_001753174.1:n.4798A>G
XR_001753175.1:n.4798A>G
XR_001753176.1:n.4798A>G
XR_001753177.1:n.4710A>G
XR_001753178.1:n.4718A>G
XR_001753179.1:n.4630A>G
XR_430039.1:n.4798A>G
XR_935054.1:n.4798A>G
XR_935055.1:n.4798A>G
XR_935055.2:n.4798A>G