Canonical Allele Identifier: CA2693805593
Gene: SMC1A HGNC NCBI

Linked Data

gnomAD v4: X-53412263-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53412263G>T , CM000685.2:g.53412263G>T GRCh38
NC_000023.10:g.53439213G>T , CM000685.1:g.53439213G>T GRCh37
NC_000023.9:g.53455938G>T NCBI36
NG_006988.2:g.15408C>A , LRG_773:g.15408C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000322213.9:c.855-10C>A MANE Select ENSP00000323421.3:n.855-10C>A
ENST00000674590.1:c.346-362C>A ENSP00000502626.1:n.346-362C>A
ENST00000675065.1:n.466-362C>A
ENST00000675504.1:c.789-10C>A ENSP00000502524.1:n.789-10C>A
ENST00000322213.8:c.855-10C>A ENSP00000323421.3:n.855-10C>A
ENST00000375340.10:c.789-10C>A ENSP00000364489.7:n.789-10C>A
ENST00000463684.1:c.*388-10C>A ENSP00000476958.1:n.*388-10C>A
NM_001281463.1:c.789-10C>A , LRG_773t1:c.789-10C>A NP_001268392.1:n.789-10C>A
NM_006306.3:c.855-10C>A , LRG_773t2:c.855-10C>A NP_006297.2:n.855-10C>A
NM_006306.4:c.855-10C>A MANE Select NP_006297.2:n.855-10C>A
Search 100 bp 5'
Search 100 bp 3'