Canonical Allele Identifier: CA16044282
Gene: SMC1A HGNC NCBI

Linked Data

ClinVar Variation Id: 375462
ClinVar RCV Id: RCV000416533
dbSNP Id: rs1057519499
MyVariant Identifiers: chrX:g.53409217T>C (hg19) chrX:g.53382296T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53382296T>C , CM000685.2:g.53382296T>C GRCh38
NC_000023.10:g.53409217T>C , CM000685.1:g.53409217T>C GRCh37
NC_000023.9:g.53425942T>C NCBI36
NG_006988.2:g.45375A>G , LRG_773:g.45375A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000322213.9:c.3373A>G MANE Select ENSP00000323421.3:p.Met1125Val
ENST00000674590.1:c.2605A>G ENSP00000502626.1:p.Met869Val
ENST00000675504.1:c.3307A>G ENSP00000502524.1:p.Met1103Val
ENST00000322213.8:c.3373A>G ENSP00000323421.3:p.Met1125Val
ENST00000375340.10:c.3307A>G ENSP00000364489.7:p.Met1103Val
ENST00000469129.1:n.229A>G
ENST00000470241.2:c.663A>G
NM_001281463.1:c.3307A>G , LRG_773t1:c.3307A>G NP_001268392.1:p.Met1103Val
NM_006306.3:c.3373A>G , LRG_773t2:c.3373A>G NP_006297.2:p.Met1125Val
NM_006306.4:c.3373A>G MANE Select NP_006297.2:p.Met1125Val
Search 100 bp 5'
Search 100 bp 3'