Canonical Allele Identifier: CA502690624

Gene: SMCHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2762236G>A , CM000680.2:g.2762236G>A	GRCh38
NC_000018.9:g.2762234G>A , CM000680.1:g.2762234G>A	GRCh37
NC_000018.8:g.2752234G>A	NCBI36
NG_031972.1:g.111349G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015295.3:c.4566G>A MANE Select	NP_056110.2:p.Thr1522=
ENST00000320876.11:c.4566G>A MANE Select	ENSP00000326603.7:p.Thr1522=
NM_015295.2:c.4566G>A	NP_056110.2:p.Thr1522=
ENST00000320876.10:c.4566G>A	ENSP00000326603.6:p.Thr1522=
ENST00000577880.5:c.2979G>A	ENSP00000463049.1:p.Thr993=
ENST00000583344.1:n.471G>A
ENST00000583344.2:n.471G>A
ENST00000584897.5:c.2386G>A
ENST00000645355.1:c.479G>A
ENST00000685656.1:n.1055-1401G>A
ENST00000686763.1:c.*125G>A	ENSP00000510263.1:n.*125G>A
ENST00000686864.1:c.1328G>A
ENST00000688342.1:c.4435-1401G>A	ENSP00000508422.1:n.4435-1401G>A
ENST00000688708.1:n.3222G>A
ENST00000688964.1:n.1266G>A
ENST00000689034.1:n.1113G>A
ENST00000693213.1:n.3764G>A
ENST00000693522.1:n.1107G>A
XM_011525642.1:c.4566G>A	XP_011523944.1:p.Thr1522=
XM_011525643.1:c.4566G>A	XP_011523945.1:p.Thr1522=
XM_011525643.2:c.4566G>A	XP_011523945.1:p.Thr1522=
XM_011525644.1:c.4182G>A	XP_011523946.1:p.Thr1394=
XM_011525645.1:c.4002G>A	XP_011523947.1:p.Thr1334=
XM_011525646.1:c.4566G>A	XP_011523948.1:p.Thr1522=
XM_017025684.1:c.4002G>A	XP_016881173.1:p.Thr1334=
XR_001753172.1:n.4755G>A
XR_001753173.1:n.4755G>A
XR_001753174.1:n.4755G>A
XR_001753175.1:n.4755G>A
XR_001753176.1:n.4755G>A
XR_001753177.1:n.4667G>A
XR_001753178.1:n.4675G>A
XR_001753179.1:n.4587G>A
XR_430039.1:n.4755G>A
XR_935054.1:n.4755G>A
XR_935055.1:n.4755G>A
XR_935055.2:n.4755G>A