Canonical Allele Identifier: CA401684290

Gene: SMCHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2729380C>T , CM000680.2:g.2729380C>T	GRCh38
NC_000018.9:g.2729378C>T , CM000680.1:g.2729378C>T	GRCh37
NC_000018.8:g.2719378C>T	NCBI36
NG_031972.1:g.78493C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015295.3:c.3019C>T MANE Select	NP_056110.2:p.Gln1007Ter
ENST00000320876.11:c.3019C>T MANE Select	ENSP00000326603.7:p.Gln1007Ter
NM_015295.2:c.3019C>T	NP_056110.2:p.Gln1007Ter
ENST00000320876.10:c.3019C>T	ENSP00000326603.6:p.Gln1007Ter
ENST00000577880.5:c.1432C>T	ENSP00000463049.1:p.Gln478Ter
ENST00000581631.1:n.289C>T
ENST00000583441.2:n.705C>T
ENST00000584897.5:c.839C>T
ENST00000686763.1:c.-177C>T	ENSP00000510263.1:n.-177C>T
ENST00000688342.1:c.3019C>T	ENSP00000508422.1:p.Gln1007Ter
ENST00000690757.1:n.476C>T
ENST00000693213.1:n.2297C>T
XM_011525642.1:c.3019C>T	XP_011523944.1:p.Gln1007Ter
XM_011525643.1:c.3019C>T	XP_011523945.1:p.Gln1007Ter
XM_011525643.2:c.3019C>T	XP_011523945.1:p.Gln1007Ter
XM_011525644.1:c.2635C>T	XP_011523946.1:p.Gln879Ter
XM_011525645.1:c.2455C>T	XP_011523947.1:p.Gln819Ter
XM_011525646.1:c.3019C>T	XP_011523948.1:p.Gln1007Ter
XM_011525647.1:c.3019C>T	XP_011523949.1:p.Gln1007Ter
XM_017025684.1:c.2455C>T	XP_016881173.1:p.Gln819Ter
XR_001753172.1:n.3208C>T
XR_001753173.1:n.3208C>T
XR_001753174.1:n.3208C>T
XR_001753175.1:n.3208C>T
XR_001753176.1:n.3208C>T
XR_001753177.1:n.3208C>T
XR_001753178.1:n.3208C>T
XR_001753179.1:n.3208C>T
XR_430039.1:n.3208C>T
XR_935054.1:n.3208C>T
XR_935055.1:n.3208C>T
XR_935055.2:n.3208C>T