Canonical Allele Identifier: CA502672892

Gene: SMCHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2772324G>T , CM000680.2:g.2772324G>T	GRCh38
NC_000018.9:g.2772322G>T , CM000680.1:g.2772322G>T	GRCh37
NC_000018.8:g.2762322G>T	NCBI36
NG_031972.1:g.121437G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015295.3:c.5127G>T MANE Select	NP_056110.2:p.Ser1709=
ENST00000320876.11:c.5127G>T MANE Select	ENSP00000326603.7:p.Ser1709=
NM_015295.2:c.5127G>T	NP_056110.2:p.Ser1709=
ENST00000320876.10:c.5127G>T	ENSP00000326603.6:p.Ser1709=
ENST00000577880.5:c.3540G>T	ENSP00000463049.1:p.Ser1180=
ENST00000584897.5:c.2947G>T
ENST00000642953.1:c.29G>T
ENST00000645355.1:c.1172G>T
ENST00000685656.1:n.1615G>T
ENST00000686763.1:c.*686G>T	ENSP00000510263.1:n.*686G>T
ENST00000686864.1:c.1889G>T
ENST00000688342.1:c.4995G>T	ENSP00000508422.1:p.Ser1665=
ENST00000688708.1:n.3856G>T
ENST00000688964.1:n.1827G>T
ENST00000689034.1:n.3074G>T
ENST00000693213.1:n.4325G>T
ENST00000693522.1:n.1668G>T
XM_011525642.1:c.5127G>T	XP_011523944.1:p.Ser1709=
XM_011525643.1:c.5127G>T	XP_011523945.1:p.Ser1709=
XM_011525643.2:c.5127G>T	XP_011523945.1:p.Ser1709=
XM_011525644.1:c.4743G>T	XP_011523946.1:p.Ser1581=
XM_011525645.1:c.4563G>T	XP_011523947.1:p.Ser1521=
XM_017025684.1:c.4563G>T	XP_016881173.1:p.Ser1521=
XR_001753172.1:n.5316G>T
XR_001753173.1:n.5316G>T
XR_001753174.1:n.5316G>T
XR_001753175.1:n.5316G>T
XR_001753176.1:n.5316G>T
XR_001753177.1:n.5228G>T
XR_001753178.1:n.5236G>T
XR_430039.1:n.5316G>T
XR_935054.1:n.5316G>T
XR_935055.1:n.5316G>T
XR_935055.2:n.5316G>T