Canonical Allele Identifier: CA8871493

Gene: SMCHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2762131A>G , CM000680.2:g.2762131A>G	GRCh38
NC_000018.9:g.2762129A>G , CM000680.1:g.2762129A>G	GRCh37
NC_000018.8:g.2752129A>G	NCBI36
NG_031972.1:g.111244A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015295.3:c.4461A>G MANE Select	NP_056110.2:p.Gln1487=
ENST00000320876.11:c.4461A>G MANE Select	ENSP00000326603.7:p.Gln1487=
NM_015295.2:c.4461A>G	NP_056110.2:p.Gln1487=
ENST00000320876.10:c.4461A>G	ENSP00000326603.6:p.Gln1487=
ENST00000577880.5:c.2874A>G	ENSP00000463049.1:p.Gln958=
ENST00000583344.1:n.366A>G
ENST00000583344.2:n.366A>G
ENST00000584897.5:c.2281A>G
ENST00000645355.1:c.374A>G
ENST00000685656.1:n.1054+1392A>G
ENST00000686763.1:c.*20A>G	ENSP00000510263.1:n.*20A>G
ENST00000686864.1:c.1223A>G
ENST00000688342.1:c.4434+1392A>G	ENSP00000508422.1:n.4434+1392A>G
ENST00000688708.1:n.3117A>G
ENST00000688964.1:n.1161A>G
ENST00000689034.1:n.1008A>G
ENST00000693213.1:n.3659A>G
ENST00000693522.1:n.1002A>G
XM_011525642.1:c.4461A>G	XP_011523944.1:p.Gln1487=
XM_011525643.1:c.4461A>G	XP_011523945.1:p.Gln1487=
XM_011525643.2:c.4461A>G	XP_011523945.1:p.Gln1487=
XM_011525644.1:c.4077A>G	XP_011523946.1:p.Gln1359=
XM_011525645.1:c.3897A>G	XP_011523947.1:p.Gln1299=
XM_011525646.1:c.4461A>G	XP_011523948.1:p.Gln1487=
XM_017025684.1:c.3897A>G	XP_016881173.1:p.Gln1299=
XR_001753172.1:n.4650A>G
XR_001753173.1:n.4650A>G
XR_001753174.1:n.4650A>G
XR_001753175.1:n.4650A>G
XR_001753176.1:n.4650A>G
XR_001753177.1:n.4562A>G
XR_001753178.1:n.4570A>G
XR_001753179.1:n.4482A>G
XR_430039.1:n.4650A>G
XR_935054.1:n.4650A>G
XR_935055.1:n.4650A>G
XR_935055.2:n.4650A>G