Canonical Allele Identifier: CA295488287

Gene: SMCHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2777822C>T , CM000680.2:g.2777822C>T	GRCh38
NC_000018.9:g.2777820C>T , CM000680.1:g.2777820C>T	GRCh37
NC_000018.8:g.2767820C>T	NCBI36
NG_031972.1:g.126935C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015295.3:c.5383C>T MANE Select	NP_056110.2:p.Arg1795Ter
ENST00000320876.11:c.5383C>T MANE Select	ENSP00000326603.7:p.Arg1795Ter
NM_015295.2:c.5383C>T	NP_056110.2:p.Arg1795Ter
ENST00000320876.10:c.5383C>T	ENSP00000326603.6:p.Arg1795Ter
ENST00000577880.5:c.3796C>T	ENSP00000463049.1:p.Arg1266Ter
ENST00000584897.5:c.3203C>T
ENST00000642953.1:c.285C>T
ENST00000645355.1:c.1428C>T
ENST00000685656.1:n.1854+1898C>T
ENST00000686763.1:c.*942C>T	ENSP00000510263.1:n.*942C>T
ENST00000686864.1:c.2145C>T
ENST00000688342.1:c.5251C>T	ENSP00000508422.1:p.Arg1751Ter
ENST00000688708.1:n.4112C>T
ENST00000688964.1:n.1892C>T
ENST00000689034.1:n.3330C>T
ENST00000693213.1:n.4581C>T
ENST00000693522.1:n.1924C>T
XM_011525642.1:c.5383C>T	XP_011523944.1:p.Arg1795Ter
XM_011525643.1:c.5383C>T	XP_011523945.1:p.Arg1795Ter
XM_011525643.2:c.5383C>T	XP_011523945.1:p.Arg1795Ter
XM_011525644.1:c.4999C>T	XP_011523946.1:p.Arg1667Ter
XM_011525645.1:c.4819C>T	XP_011523947.1:p.Arg1607Ter
XM_017025684.1:c.4819C>T	XP_016881173.1:p.Arg1607Ter
XR_001753172.1:n.5572C>T
XR_001753173.1:n.5572C>T
XR_001753174.1:n.5572C>T
XR_001753175.1:n.5572C>T
XR_001753176.1:n.5381C>T
XR_001753177.1:n.5484C>T
XR_001753178.1:n.5492C>T
XR_430039.1:n.5572C>T
XR_935054.1:n.5381C>T
XR_935055.1:n.5381C>T
XR_935055.2:n.5381C>T