Canonical Allele Identifier: CA2429816180
Gene: SMC1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53378235A= , CM000685.2:g.53378235A= GRCh38
NC_000023.10:g.53405156A= , CM000685.1:g.53405156A= GRCh37
NC_000023.9:g.53421881A= NCBI36
NG_006988.2:g.49436T= , LRG_773:g.49436T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000322213.9:c.*1868T= MANE Select ENSP00000323421.3:n.*1868T=
ENST00000675504.1:c.*1868T= ENSP00000502524.1:n.*1868T=
ENST00000322213.8:c.*1868T= ENSP00000323421.3:n.*1868T=
ENST00000375340.10:c.*1868T= ENSP00000364489.7:n.*1868T=
NM_001281463.1:c.*1868T= , LRG_773t1:c.*1868T= NP_001268392.1:n.*1868T=
NM_006306.3:c.*1868T= , LRG_773t2:c.*1868T= NP_006297.2:n.*1868T=
NM_006306.4:c.*1868T= MANE Select NP_006297.2:n.*1868T=