Canonical Allele Identifier: CA10420493

Gene: SMC1A

Linked Data

• dbSNP Id: rs782457850
• ExAC: X:53432222 T / C
• gnomAD v2: X-53432222-T-C
• gnomAD v4: X-53405290-T-C
• MyVariant Identifiers: chrX:g.53432222T>C (hg19) ; chrX:g.53405290T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405290T>C , CM000685.2:g.53405290T>C	GRCh38
NC_000023.10:g.53432222T>C , CM000685.1:g.53432222T>C	GRCh37
NC_000023.9:g.53448947T>C	NCBI36
NG_006988.2:g.22381A>G , LRG_773:g.22381A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.2013A>G MANE Select	ENSP00000323421.3:p.Val671=
ENST00000674590.1:c.1245A>G	ENSP00000502626.1:p.Val415=
ENST00000675065.1:n.1365A>G
ENST00000675504.1:c.1947A>G	ENSP00000502524.1:p.Val649=
ENST00000322213.8:c.2013A>G	ENSP00000323421.3:p.Val671=
ENST00000375340.10:c.1947A>G	ENSP00000364489.7:p.Val649=
NM_001281463.1:c.1947A>G , LRG_773t1:c.1947A>G	NP_001268392.1:p.Val649=
NM_006306.3:c.2013A>G , LRG_773t2:c.2013A>G	NP_006297.2:p.Val671=
NM_006306.4:c.2013A>G MANE Select	NP_006297.2:p.Val671=