Canonical Allele Identifier: CA2820953191

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53378248C>G , CM000685.2:g.53378248C>G	GRCh38
NC_000023.10:g.53405169C>G , CM000685.1:g.53405169C>G	GRCh37
NC_000023.9:g.53421894C>G	NCBI36
NG_006988.2:g.49423G>C , LRG_773:g.49423G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.*1855G>C MANE Select	ENSP00000323421.3:n.*1855G>C
ENST00000675504.1:c.*1855G>C	ENSP00000502524.1:n.*1855G>C
ENST00000322213.8:c.*1855G>C	ENSP00000323421.3:n.*1855G>C
ENST00000375340.10:c.*1855G>C	ENSP00000364489.7:n.*1855G>C
NM_001281463.1:c.*1855G>C , LRG_773t1:c.*1855G>C	NP_001268392.1:n.*1855G>C
NM_006306.3:c.*1855G>C , LRG_773t2:c.*1855G>C	NP_006297.2:n.*1855G>C
NM_006306.4:c.*1855G>C MANE Select	NP_006297.2:n.*1855G>C