Canonical Allele Identifier: CA2429825224
Gene: SMC1A HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53405218C= , CM000685.2:g.53405218C= GRCh38
NC_000023.10:g.53432150C= , CM000685.1:g.53432150C= GRCh37
NC_000023.9:g.53448875C= NCBI36
NG_006988.2:g.22453G= , LRG_773:g.22453G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000322213.9:c.2058+27G= MANE Select ENSP00000323421.3:n.2058+27G=
ENST00000674590.1:c.1290+27G= ENSP00000502626.1:n.1290+27G=
ENST00000675065.1:n.1410+27G=
ENST00000675504.1:c.1992+27G= ENSP00000502524.1:n.1992+27G=
ENST00000322213.8:c.2058+27G= ENSP00000323421.3:n.2058+27G=
ENST00000375340.10:c.1992+27G= ENSP00000364489.7:n.1992+27G=
NM_001281463.1:c.1992+27G= , LRG_773t1:c.1992+27G= NP_001268392.1:n.1992+27G=
NM_006306.3:c.2058+27G= , LRG_773t2:c.2058+27G= NP_006297.2:n.2058+27G=
NM_006306.4:c.2058+27G= MANE Select NP_006297.2:n.2058+27G=
Search 100 bp 5'
Search 100 bp 3'