Canonical Allele Identifier: CA8871604

Gene: SMCHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2770054G>A , CM000680.2:g.2770054G>A	GRCh38
NC_000018.9:g.2770052G>A , CM000680.1:g.2770052G>A	GRCh37
NC_000018.8:g.2760052G>A	NCBI36
NG_031972.1:g.119167G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015295.3:c.4912G>A MANE Select	NP_056110.2:p.Val1638Ile
ENST00000320876.11:c.4912G>A MANE Select	ENSP00000326603.7:p.Val1638Ile
NM_015295.2:c.4912G>A	NP_056110.2:p.Val1638Ile
ENST00000320876.10:c.4912G>A	ENSP00000326603.6:p.Val1638Ile
ENST00000577880.5:c.3325G>A	ENSP00000463049.1:p.Val1109Ile
ENST00000583344.2:n.817G>A
ENST00000584897.5:c.2732G>A
ENST00000645355.1:c.957G>A
ENST00000685656.1:n.1400G>A
ENST00000686763.1:c.*471G>A	ENSP00000510263.1:n.*471G>A
ENST00000686864.1:c.1674G>A
ENST00000688342.1:c.4780G>A	ENSP00000508422.1:p.Val1594Ile
ENST00000688708.1:n.3641G>A
ENST00000688964.1:n.1612G>A
ENST00000689034.1:n.2859G>A
ENST00000693213.1:n.4110G>A
ENST00000693522.1:n.1453G>A
XM_011525642.1:c.4912G>A	XP_011523944.1:p.Val1638Ile
XM_011525643.1:c.4912G>A	XP_011523945.1:p.Val1638Ile
XM_011525643.2:c.4912G>A	XP_011523945.1:p.Val1638Ile
XM_011525644.1:c.4528G>A	XP_011523946.1:p.Val1510Ile
XM_011525645.1:c.4348G>A	XP_011523947.1:p.Val1450Ile
XM_017025684.1:c.4348G>A	XP_016881173.1:p.Val1450Ile
XR_001753172.1:n.5101G>A
XR_001753173.1:n.5101G>A
XR_001753174.1:n.5101G>A
XR_001753175.1:n.5101G>A
XR_001753176.1:n.5101G>A
XR_001753177.1:n.5013G>A
XR_001753178.1:n.5021G>A
XR_001753179.1:n.4933G>A
XR_430039.1:n.5101G>A
XR_935054.1:n.5101G>A
XR_935055.1:n.5101G>A
XR_935055.2:n.5101G>A