Canonical Allele Identifier: CA1133194534
Gene: SMC1A HGNC NCBI

Linked Data

dbSNP Id: rs1799856394
gnomAD v3: X-53378100-C-T
gnomAD v4: X-53378100-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53378100C>T , CM000685.2:g.53378100C>T GRCh38
NC_000023.10:g.53405021C>T , CM000685.1:g.53405021C>T GRCh37
NC_000023.9:g.53421746C>T NCBI36
NG_006988.2:g.49571G>A , LRG_773:g.49571G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000322213.9:c.*2003G>A MANE Select ENSP00000323421.3:n.*2003G>A
ENST00000675504.1:c.*2003G>A ENSP00000502524.1:n.*2003G>A
ENST00000322213.8:c.*2003G>A ENSP00000323421.3:n.*2003G>A
ENST00000375340.10:c.*2003G>A ENSP00000364489.7:n.*2003G>A
NM_001281463.1:c.*2003G>A , LRG_773t1:c.*2003G>A NP_001268392.1:n.*2003G>A
NM_006306.3:c.*2003G>A , LRG_773t2:c.*2003G>A NP_006297.2:n.*2003G>A
NM_006306.4:c.*2003G>A MANE Select NP_006297.2:n.*2003G>A
Search 100 bp 5'
Search 100 bp 3'