Canonical Allele Identifier: CA3229058442

Gene: SMCHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2770021A= , CM000680.2:g.2770021A=	GRCh38
NC_000018.9:g.2770019A= , CM000680.1:g.2770019A=	GRCh37
NC_000018.8:g.2760019A=	NCBI36
NG_031972.1:g.119134A=

Transcript Alleles

HGVS	Amino-acid Change
NM_015295.3:c.4879A= MANE Select	NP_056110.2:p.Thr1627=
ENST00000320876.11:c.4879A= MANE Select	ENSP00000326603.7:p.Thr1627=
NM_015295.2:c.4879A=	NP_056110.2:p.Thr1627=
ENST00000320876.10:c.4879A=	ENSP00000326603.6:p.Thr1627=
ENST00000577880.5:c.3292A=	ENSP00000463049.1:p.Thr1098=
ENST00000583344.2:n.784A=
ENST00000584897.5:c.2699A=
ENST00000645355.1:c.924A=
ENST00000685656.1:n.1367A=
ENST00000686763.1:c.*438A=	ENSP00000510263.1:n.*438A=
ENST00000686864.1:c.1641A=
ENST00000688342.1:c.4747A=	ENSP00000508422.1:p.Thr1583=
ENST00000688708.1:n.3608A=
ENST00000688964.1:n.1579A=
ENST00000689034.1:n.2826A=
ENST00000693213.1:n.4077A=
ENST00000693522.1:n.1420A=
XM_011525642.1:c.4879A=	XP_011523944.1:p.Thr1627=
XM_011525643.1:c.4879A=	XP_011523945.1:p.Thr1627=
XM_011525643.2:c.4879A=	XP_011523945.1:p.Thr1627=
XM_011525644.1:c.4495A=	XP_011523946.1:p.Thr1499=
XM_011525645.1:c.4315A=	XP_011523947.1:p.Thr1439=
XM_017025684.1:c.4315A=	XP_016881173.1:p.Thr1439=
XR_001753172.1:n.5068A=
XR_001753173.1:n.5068A=
XR_001753174.1:n.5068A=
XR_001753175.1:n.5068A=
XR_001753176.1:n.5068A=
XR_001753177.1:n.4980A=
XR_001753178.1:n.4988A=
XR_001753179.1:n.4900A=
XR_430039.1:n.5068A=
XR_935054.1:n.5068A=
XR_935055.1:n.5068A=
XR_935055.2:n.5068A=