Canonical Allele Identifier: CA516688064

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 2660609
• ClinVar RCV Id: RCV003438383
• dbSNP Id: rs1449231560
• gnomAD v4: X-53405254-C-T
• MyVariant Identifiers: chrX:g.53432186C>T (hg19) ; chrX:g.53405254C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405254C>T , CM000685.2:g.53405254C>T	GRCh38
NC_000023.10:g.53432186C>T , CM000685.1:g.53432186C>T	GRCh37
NC_000023.9:g.53448911C>T	NCBI36
NG_006988.2:g.22417G>A , LRG_773:g.22417G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.2049G>A MANE Select	ENSP00000323421.3:p.Glu683=
ENST00000674590.1:c.1281G>A	ENSP00000502626.1:p.Glu427=
ENST00000675065.1:n.1401G>A
ENST00000675504.1:c.1983G>A	ENSP00000502524.1:p.Glu661=
ENST00000322213.8:c.2049G>A	ENSP00000323421.3:p.Glu683=
ENST00000375340.10:c.1983G>A	ENSP00000364489.7:p.Glu661=
NM_001281463.1:c.1983G>A , LRG_773t1:c.1983G>A	NP_001268392.1:p.Glu661=
NM_006306.3:c.2049G>A , LRG_773t2:c.2049G>A	NP_006297.2:p.Glu683=
NM_006306.4:c.2049G>A MANE Select	NP_006297.2:p.Glu683=