Canonical Allele Identifier: CA2693803804
Gene: SMC1A HGNC NCBI

Linked Data

gnomAD v4: X-53382186-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53382186C>G , CM000685.2:g.53382186C>G GRCh38
NC_000023.10:g.53409107C>G , CM000685.1:g.53409107C>G GRCh37
NC_000023.9:g.53425832C>G NCBI36
NG_006988.2:g.45485G>C , LRG_773:g.45485G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000322213.9:c.3437+46G>C MANE Select ENSP00000323421.3:n.3437+46G>C
ENST00000674590.1:c.2669+46G>C ENSP00000502626.1:n.2669+46G>C
ENST00000675504.1:c.3371+46G>C ENSP00000502524.1:n.3371+46G>C
ENST00000322213.8:c.3437+46G>C ENSP00000323421.3:n.3437+46G>C
ENST00000375340.10:c.3371+46G>C ENSP00000364489.7:n.3371+46G>C
ENST00000469129.1:n.339G>C
ENST00000470241.2:c.727+46G>C
NM_001281463.1:c.3371+46G>C , LRG_773t1:c.3371+46G>C NP_001268392.1:n.3371+46G>C
NM_006306.3:c.3437+46G>C , LRG_773t2:c.3437+46G>C NP_006297.2:n.3437+46G>C
NM_006306.4:c.3437+46G>C MANE Select NP_006297.2:n.3437+46G>C
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