Canonical Allele Identifier: CA401688111

Gene: SMCHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2666993T>A , CM000680.2:g.2666993T>A	GRCh38
NC_000018.9:g.2666992T>A , CM000680.1:g.2666992T>A	GRCh37
NC_000018.8:g.2656992T>A	NCBI36
NG_031972.1:g.16107T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015295.3:c.386T>A MANE Select	NP_056110.2:p.Met129Lys
ENST00000320876.11:c.386T>A MANE Select	ENSP00000326603.7:p.Met129Lys
NM_015295.2:c.386T>A	NP_056110.2:p.Met129Lys
ENST00000320876.10:c.386T>A	ENSP00000326603.6:p.Met129Lys
ENST00000684915.1:n.543T>A
ENST00000688342.1:c.386T>A	ENSP00000508422.1:p.Met129Lys
XM_011525642.1:c.386T>A	XP_011523944.1:p.Met129Lys
XM_011525643.1:c.386T>A	XP_011523945.1:p.Met129Lys
XM_011525643.2:c.386T>A	XP_011523945.1:p.Met129Lys
XM_011525644.1:c.2T>A	XP_011523946.1:p.Met1Lys
XM_011525645.1:c.-357T>A	XP_011523947.1:n.-357T>A
XM_011525646.1:c.386T>A	XP_011523948.1:p.Met129Lys
XM_011525647.1:c.386T>A	XP_011523949.1:p.Met129Lys
XM_017025684.1:c.-357T>A	XP_016881173.1:n.-357T>A
XR_001753172.1:n.575T>A
XR_001753173.1:n.575T>A
XR_001753174.1:n.575T>A
XR_001753175.1:n.575T>A
XR_001753176.1:n.575T>A
XR_001753177.1:n.575T>A
XR_001753178.1:n.575T>A
XR_001753179.1:n.575T>A
XR_430039.1:n.575T>A
XR_935054.1:n.575T>A
XR_935055.1:n.575T>A
XR_935055.2:n.575T>A