Canonical Allele Identifier: CA8871020

Gene: SMCHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2724892T>C , CM000680.2:g.2724892T>C	GRCh38
NC_000018.9:g.2724890T>C , CM000680.1:g.2724890T>C	GRCh37
NC_000018.8:g.2714890T>C	NCBI36
NG_031972.1:g.74005T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015295.3:c.2604-7T>C MANE Select	NP_056110.2:n.2604-7T>C
ENST00000320876.11:c.2604-7T>C MANE Select	ENSP00000326603.7:n.2604-7T>C
NM_015295.2:c.2604-7T>C	NP_056110.2:n.2604-7T>C
ENST00000320876.10:c.2604-7T>C	ENSP00000326603.6:n.2604-7T>C
ENST00000577880.5:c.1017-7T>C	ENSP00000463049.1:n.1017-7T>C
ENST00000583441.2:n.290-7T>C
ENST00000584897.5:c.424-7T>C
ENST00000688342.1:c.2604-7T>C	ENSP00000508422.1:n.2604-7T>C
ENST00000690757.1:n.61-7T>C
ENST00000693213.1:n.1882-7T>C
XM_011525642.1:c.2604-7T>C	XP_011523944.1:n.2604-7T>C
XM_011525643.1:c.2604-7T>C	XP_011523945.1:n.2604-7T>C
XM_011525643.2:c.2604-7T>C	XP_011523945.1:n.2604-7T>C
XM_011525644.1:c.2220-7T>C	XP_011523946.1:n.2220-7T>C
XM_011525645.1:c.2040-7T>C	XP_011523947.1:n.2040-7T>C
XM_011525646.1:c.2604-7T>C	XP_011523948.1:n.2604-7T>C
XM_011525647.1:c.2604-7T>C	XP_011523949.1:n.2604-7T>C
XM_017025684.1:c.2040-7T>C	XP_016881173.1:n.2040-7T>C
XR_001753172.1:n.2793-7T>C
XR_001753173.1:n.2793-7T>C
XR_001753174.1:n.2793-7T>C
XR_001753175.1:n.2793-7T>C
XR_001753176.1:n.2793-7T>C
XR_001753177.1:n.2793-7T>C
XR_001753178.1:n.2793-7T>C
XR_001753179.1:n.2793-7T>C
XR_430039.1:n.2793-7T>C
XR_935054.1:n.2793-7T>C
XR_935055.1:n.2793-7T>C
XR_935055.2:n.2793-7T>C