Canonical Allele Identifier: CA2280714176

Gene: SMCHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2770040T= , CM000680.2:g.2770040T=	GRCh38
NC_000018.9:g.2770038T= , CM000680.1:g.2770038T=	GRCh37
NC_000018.8:g.2760038T=	NCBI36
NG_031972.1:g.119153T=

Transcript Alleles

HGVS	Amino-acid Change
NM_015295.3:c.4898T= MANE Select	NP_056110.2:p.Leu1633=
ENST00000320876.11:c.4898T= MANE Select	ENSP00000326603.7:p.Leu1633=
NM_015295.2:c.4898T=	NP_056110.2:p.Leu1633=
ENST00000320876.10:c.4898T=	ENSP00000326603.6:p.Leu1633=
ENST00000577880.5:c.3311T=	ENSP00000463049.1:p.Leu1104=
ENST00000583344.2:n.803T=
ENST00000584897.5:c.2718T=
ENST00000645355.1:c.943T=
ENST00000685656.1:n.1386T=
ENST00000686763.1:c.*457T=	ENSP00000510263.1:n.*457T=
ENST00000686864.1:c.1660T=
ENST00000688342.1:c.4766T=	ENSP00000508422.1:p.Leu1589=
ENST00000688708.1:n.3627T=
ENST00000688964.1:n.1598T=
ENST00000689034.1:n.2845T=
ENST00000693213.1:n.4096T=
ENST00000693522.1:n.1439T=
XM_011525642.1:c.4898T=	XP_011523944.1:p.Leu1633=
XM_011525643.1:c.4898T=	XP_011523945.1:p.Leu1633=
XM_011525643.2:c.4898T=	XP_011523945.1:p.Leu1633=
XM_011525644.1:c.4514T=	XP_011523946.1:p.Leu1505=
XM_011525645.1:c.4334T=	XP_011523947.1:p.Leu1445=
XM_017025684.1:c.4334T=	XP_016881173.1:p.Leu1445=
XR_001753172.1:n.5087T=
XR_001753173.1:n.5087T=
XR_001753174.1:n.5087T=
XR_001753175.1:n.5087T=
XR_001753176.1:n.5087T=
XR_001753177.1:n.4999T=
XR_001753178.1:n.5007T=
XR_001753179.1:n.4919T=
XR_430039.1:n.5087T=
XR_935054.1:n.5087T=
XR_935055.1:n.5087T=
XR_935055.2:n.5087T=