Canonical Allele Identifier: CA413243563
Gene: SMC1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53382355T>G , CM000685.2:g.53382355T>G GRCh38
NC_000023.10:g.53409276T>G , CM000685.1:g.53409276T>G GRCh37
NC_000023.9:g.53426001T>G NCBI36
NG_006988.2:g.45316A>C , LRG_773:g.45316A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000322213.9:c.3314A>C MANE Select ENSP00000323421.3:p.Glu1105Ala
ENST00000674590.1:c.2546A>C ENSP00000502626.1:p.Glu849Ala
ENST00000675504.1:c.3248A>C ENSP00000502524.1:p.Glu1083Ala
ENST00000322213.8:c.3314A>C ENSP00000323421.3:p.Glu1105Ala
ENST00000375340.10:c.3248A>C ENSP00000364489.7:p.Glu1083Ala
ENST00000469129.1:n.170A>C
ENST00000470241.2:c.604A>C
NM_001281463.1:c.3248A>C , LRG_773t1:c.3248A>C NP_001268392.1:p.Glu1083Ala
NM_006306.3:c.3314A>C , LRG_773t2:c.3314A>C NP_006297.2:p.Glu1105Ala
NM_006306.4:c.3314A>C MANE Select NP_006297.2:p.Glu1105Ala