Canonical Allele Identifier: CA10420265
Gene: SMC1A HGNC NCBI

Linked Data

ClinVar Variation Id: 915105
ClinVar RCV Id: RCV001169562 RCV002339421 RCV003438713
dbSNP Id: rs782763816
ExAC: X:53407625 C / G
gnomAD v2: X-53407625-C-G
gnomAD v4: X-53380704-C-G
MyVariant Identifiers: chrX:g.53407625C>G (hg19) chrX:g.53380704C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53380704C>G , CM000685.2:g.53380704C>G GRCh38
NC_000023.10:g.53407625C>G , CM000685.1:g.53407625C>G GRCh37
NC_000023.9:g.53424350C>G NCBI36
NG_006988.2:g.46967G>C , LRG_773:g.46967G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000322213.9:c.3534G>C MANE Select ENSP00000323421.3:p.Ser1178=
ENST00000674590.1:c.2766G>C ENSP00000502626.1:p.Ser922=
ENST00000675504.1:c.3468G>C ENSP00000502524.1:p.Ser1156=
ENST00000322213.8:c.3534G>C ENSP00000323421.3:p.Ser1178=
ENST00000375340.10:c.3468G>C ENSP00000364489.7:p.Ser1156=
ENST00000470241.2:c.754G>C
NM_001281463.1:c.3468G>C , LRG_773t1:c.3468G>C NP_001268392.1:p.Ser1156=
NM_006306.3:c.3534G>C , LRG_773t2:c.3534G>C NP_006297.2:p.Ser1178=
NM_006306.4:c.3534G>C MANE Select NP_006297.2:p.Ser1178=
Search 100 bp 5'
Search 100 bp 3'