Canonical Allele Identifier: CA10606730
Gene: SMCHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.2770040T>G , CM000680.2:g.2770040T>G GRCh38
NC_000018.9:g.2770038T>G , CM000680.1:g.2770038T>G GRCh37
NC_000018.8:g.2760038T>G NCBI36
NG_031972.1:g.119153T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000583344.2:n.803T>G
ENST00000685656.1:n.1386T>G
ENST00000686763.1:c.*457T>G ENSP00000510263.1:n.*457T>G
ENST00000686864.1:c.1660T>G
ENST00000688342.1:c.4766T>G ENSP00000508422.1:p.Leu1589Ter
ENST00000688708.1:n.3627T>G
ENST00000688964.1:n.1598T>G
ENST00000689034.1:n.2845T>G
ENST00000693213.1:n.4096T>G
ENST00000693522.1:n.1439T>G
ENST00000320876.11:c.4898T>G MANE Select ENSP00000326603.7:p.Leu1633Ter
ENST00000645355.1:c.943T>G
ENST00000320876.10:c.4898T>G ENSP00000326603.6:p.Leu1633Ter
ENST00000577880.5:c.3311T>G ENSP00000463049.1:p.Leu1104Ter
ENST00000584897.5:c.2718T>G
NM_015295.2:c.4898T>G NP_056110.2:p.Leu1633Ter
XM_011525642.1:c.4898T>G XP_011523944.1:p.Leu1633Ter
XM_011525643.1:c.4898T>G XP_011523945.1:p.Leu1633Ter
XM_011525644.1:c.4514T>G XP_011523946.1:p.Leu1505Ter
XM_011525645.1:c.4334T>G XP_011523947.1:p.Leu1445Ter
XR_430039.1:n.5087T>G
XR_935054.1:n.5087T>G
XR_935055.1:n.5087T>G
XM_011525643.2:c.4898T>G XP_011523945.1:p.Leu1633Ter
XM_017025684.1:c.4334T>G XP_016881173.1:p.Leu1445Ter
XR_001753172.1:n.5087T>G
XR_001753173.1:n.5087T>G
XR_001753174.1:n.5087T>G
XR_001753175.1:n.5087T>G
XR_001753176.1:n.5087T>G
XR_001753177.1:n.4999T>G
XR_001753178.1:n.5007T>G
XR_001753179.1:n.4919T>G
XR_935055.2:n.5087T>G
NM_015295.3:c.4898T>G MANE Select NP_056110.2:p.Leu1633Ter