Canonical Allele Identifier: CA10604029

Gene: SMCHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2743760G>C , CM000680.2:g.2743760G>C	GRCh38
NC_000018.9:g.2743758G>C , CM000680.1:g.2743758G>C	GRCh37
NC_000018.8:g.2733758G>C	NCBI36
NG_031972.1:g.92873G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015295.3:c.3634-1G>C MANE Select	NP_056110.2:n.3634-1G>C
ENST00000320876.11:c.3634-1G>C MANE Select	ENSP00000326603.7:n.3634-1G>C
NM_015295.2:c.3634-1G>C	NP_056110.2:n.3634-1G>C
ENST00000320876.10:c.3634-1G>C	ENSP00000326603.6:n.3634-1G>C
ENST00000577880.5:c.2047-1G>C	ENSP00000463049.1:n.2047-1G>C
ENST00000583441.2:n.1320-1G>C
ENST00000584897.5:c.1454-1G>C
ENST00000686763.1:c.439-1G>C	ENSP00000510263.1:n.439-1G>C
ENST00000686864.1:c.396-1G>C
ENST00000688342.1:c.3634-1G>C	ENSP00000508422.1:n.3634-1G>C
ENST00000688708.1:n.2290-1G>C
ENST00000690757.1:n.1091-1G>C
ENST00000693213.1:n.2912-1G>C
XM_011525642.1:c.3634-1G>C	XP_011523944.1:n.3634-1G>C
XM_011525643.1:c.3634-1G>C	XP_011523945.1:n.3634-1G>C
XM_011525643.2:c.3634-1G>C	XP_011523945.1:n.3634-1G>C
XM_011525644.1:c.3250-1G>C	XP_011523946.1:n.3250-1G>C
XM_011525645.1:c.3070-1G>C	XP_011523947.1:n.3070-1G>C
XM_011525646.1:c.3634-1G>C	XP_011523948.1:n.3634-1G>C
XM_011525647.1:c.3634-1G>C	XP_011523949.1:n.3634-1G>C
XM_017025684.1:c.3070-1G>C	XP_016881173.1:n.3070-1G>C
XR_001753172.1:n.3823-1G>C
XR_001753173.1:n.3823-1G>C
XR_001753174.1:n.3823-1G>C
XR_001753175.1:n.3823-1G>C
XR_001753176.1:n.3823-1G>C
XR_001753177.1:n.3823-1G>C
XR_001753178.1:n.3823-1G>C
XR_001753179.1:n.3823-1G>C
XR_430039.1:n.3823-1G>C
XR_935054.1:n.3823-1G>C
XR_935055.1:n.3823-1G>C
XR_935055.2:n.3823-1G>C