Canonical Allele Identifier: CA8871736

Gene: SMCHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2778218G>A , CM000680.2:g.2778218G>A	GRCh38
NC_000018.9:g.2778216G>A , CM000680.1:g.2778216G>A	GRCh37
NC_000018.8:g.2768216G>A	NCBI36
NG_031972.1:g.127331G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015295.3:c.5526G>A MANE Select	NP_056110.2:p.Ala1842=
ENST00000320876.11:c.5526G>A MANE Select	ENSP00000326603.7:p.Ala1842=
NM_015295.2:c.5526G>A	NP_056110.2:p.Ala1842=
ENST00000320876.10:c.5526G>A	ENSP00000326603.6:p.Ala1842=
ENST00000577880.5:c.3939G>A	ENSP00000463049.1:p.Ala1313=
ENST00000584897.5:c.3296+303G>A
ENST00000642953.1:c.428G>A
ENST00000645355.1:c.1571G>A
ENST00000685656.1:n.1854+2294G>A
ENST00000686763.1:c.*1085G>A	ENSP00000510263.1:n.*1085G>A
ENST00000686864.1:c.2238+303G>A
ENST00000688342.1:c.5394G>A	ENSP00000508422.1:p.Ala1798=
ENST00000688708.1:n.4255G>A
ENST00000688964.1:n.2035G>A
ENST00000689034.1:n.3473G>A
ENST00000693213.1:n.4724G>A
ENST00000693522.1:n.2320G>A
XM_011525642.1:c.5526G>A	XP_011523944.1:p.Ala1842=
XM_011525643.1:c.5526G>A	XP_011523945.1:p.Ala1842=
XM_011525643.2:c.5526G>A	XP_011523945.1:p.Ala1842=
XM_011525644.1:c.5142G>A	XP_011523946.1:p.Ala1714=
XM_011525645.1:c.4962G>A	XP_011523947.1:p.Ala1654=
XM_017025684.1:c.4962G>A	XP_016881173.1:p.Ala1654=
XR_001753172.1:n.5715G>A
XR_001753173.1:n.5715G>A
XR_001753174.1:n.5665+303G>A
XR_001753175.1:n.5665+303G>A
XR_001753176.1:n.5524G>A
XR_001753177.1:n.5627G>A
XR_001753178.1:n.5585+303G>A
XR_430039.1:n.5665+303G>A
XR_935054.1:n.5524G>A
XR_935055.1:n.5474+303G>A
XR_935055.2:n.5474+303G>A