Canonical Allele Identifier: CA641906902
Gene: SMC1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1601363
ClinVar RCV Id: RCV002125081
dbSNP Id: rs1356800269
gnomAD v2: X-53432168-G-C
gnomAD v3: X-53405236-G-C
gnomAD v4: X-53405236-G-C
MyVariant Identifiers: chrX:g.53432168G>C (hg19) chrX:g.53405236G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53405236G>C , CM000685.2:g.53405236G>C GRCh38
NC_000023.10:g.53432168G>C , CM000685.1:g.53432168G>C GRCh37
NC_000023.9:g.53448893G>C NCBI36
NG_006988.2:g.22435C>G , LRG_773:g.22435C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000322213.9:c.2058+9C>G MANE Select ENSP00000323421.3:n.2058+9C>G
ENST00000674590.1:c.1290+9C>G ENSP00000502626.1:n.1290+9C>G
ENST00000675065.1:n.1410+9C>G
ENST00000675504.1:c.1992+9C>G ENSP00000502524.1:n.1992+9C>G
ENST00000322213.8:c.2058+9C>G ENSP00000323421.3:n.2058+9C>G
ENST00000375340.10:c.1992+9C>G ENSP00000364489.7:n.1992+9C>G
NM_001281463.1:c.1992+9C>G , LRG_773t1:c.1992+9C>G NP_001268392.1:n.1992+9C>G
NM_006306.3:c.2058+9C>G , LRG_773t2:c.2058+9C>G NP_006297.2:n.2058+9C>G
NM_006306.4:c.2058+9C>G MANE Select NP_006297.2:n.2058+9C>G
Search 100 bp 5'
Search 100 bp 3'