Canonical Allele Identifier: CA2429816126
Gene: SMC1A HGNC NCBI

Linked Data

dbSNP Id: rs2075566786
gnomAD v4: X-53378003-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53378003T>C , CM000685.2:g.53378003T>C GRCh38
NC_000023.10:g.53404924T>C , CM000685.1:g.53404924T>C GRCh37
NC_000023.9:g.53421649T>C NCBI36
NG_006988.2:g.49668A>G , LRG_773:g.49668A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000322213.9:c.*2100A>G MANE Select ENSP00000323421.3:n.*2100A>G
ENST00000675504.1:c.*2100A>G ENSP00000502524.1:n.*2100A>G
ENST00000322213.8:c.*2100A>G ENSP00000323421.3:n.*2100A>G
ENST00000375340.10:c.*2100A>G ENSP00000364489.7:n.*2100A>G
NM_001281463.1:c.*2100A>G , LRG_773t1:c.*2100A>G NP_001268392.1:n.*2100A>G
NM_006306.3:c.*2100A>G , LRG_773t2:c.*2100A>G NP_006297.2:n.*2100A>G
NM_006306.4:c.*2100A>G MANE Select NP_006297.2:n.*2100A>G
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