Canonical Allele Identifier: CA2820953186

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53378158T>C , CM000685.2:g.53378158T>C	GRCh38
NC_000023.10:g.53405079T>C , CM000685.1:g.53405079T>C	GRCh37
NC_000023.9:g.53421804T>C	NCBI36
NG_006988.2:g.49513A>G , LRG_773:g.49513A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.*1945A>G MANE Select	ENSP00000323421.3:n.*1945A>G
ENST00000675504.1:c.*1945A>G	ENSP00000502524.1:n.*1945A>G
ENST00000322213.8:c.*1945A>G	ENSP00000323421.3:n.*1945A>G
ENST00000375340.10:c.*1945A>G	ENSP00000364489.7:n.*1945A>G
NM_001281463.1:c.*1945A>G , LRG_773t1:c.*1945A>G	NP_001268392.1:n.*1945A>G
NM_006306.3:c.*1945A>G , LRG_773t2:c.*1945A>G	NP_006297.2:n.*1945A>G
NM_006306.4:c.*1945A>G MANE Select	NP_006297.2:n.*1945A>G