Canonical Allele Identifier: CA516688069
Gene: SMC1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1648162
ClinVar RCV Id: RCV002160781 RCV002416505
dbSNP Id: rs1388761806
gnomAD v2: X-53432189-T-C
gnomAD v4: X-53405257-T-C
MyVariant Identifiers: chrX:g.53432189T>C (hg19) chrX:g.53405257T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53405257T>C , CM000685.2:g.53405257T>C GRCh38
NC_000023.10:g.53432189T>C , CM000685.1:g.53432189T>C GRCh37
NC_000023.9:g.53448914T>C NCBI36
NG_006988.2:g.22414A>G , LRG_773:g.22414A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000322213.9:c.2046A>G MANE Select ENSP00000323421.3:p.Thr682=
ENST00000674590.1:c.1278A>G ENSP00000502626.1:p.Thr426=
ENST00000675065.1:n.1398A>G
ENST00000675504.1:c.1980A>G ENSP00000502524.1:p.Thr660=
ENST00000322213.8:c.2046A>G ENSP00000323421.3:p.Thr682=
ENST00000375340.10:c.1980A>G ENSP00000364489.7:p.Thr660=
NM_001281463.1:c.1980A>G , LRG_773t1:c.1980A>G NP_001268392.1:p.Thr660=
NM_006306.3:c.2046A>G , LRG_773t2:c.2046A>G NP_006297.2:p.Thr682=
NM_006306.4:c.2046A>G MANE Select NP_006297.2:p.Thr682=
Search 100 bp 5'
Search 100 bp 3'