Canonical Allele Identifier: CA641884578
Gene: SMC1A HGNC NCBI

Linked Data

dbSNP Id: rs1257026078
gnomAD v2: X-53404976-A-AT
gnomAD v3: X-53378055-A-AT
gnomAD v4: X-53378055-A-AT
MyVariant Identifiers: chrX:g.53404976_53404977insT (hg19) chrX:g.53378055_53378056insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53378056dup , CM000685.2:g.53378056dup GRCh38
NC_000023.10:g.53404977dup , CM000685.1:g.53404977dup GRCh37
NC_000023.9:g.53421702dup NCBI36
NG_006988.2:g.49615dup , LRG_773:g.49615dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000322213.9:c.*2047dup MANE Select ENSP00000323421.3:n.*2047dup
ENST00000675504.1:c.*2047dup ENSP00000502524.1:n.*2047dup
ENST00000322213.8:c.*2047dup ENSP00000323421.3:n.*2047dup
ENST00000375340.10:c.*2047dup ENSP00000364489.7:n.*2047dup
NM_001281463.1:c.*2047dup , LRG_773t1:c.*2047dup NP_001268392.1:n.*2047dup
NM_006306.3:c.*2047dup , LRG_773t2:c.*2047dup NP_006297.2:n.*2047dup
NM_006306.4:c.*2047dup MANE Select NP_006297.2:n.*2047dup
Search 100 bp 5'
Search 100 bp 3'