Canonical Allele Identifier: CA516561933

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 1558330
• ClinVar RCV Id: RCV002197723
• dbSNP Id: rs2075702025
• gnomAD v4: X-53409182-C-T
• MyVariant Identifiers: chrX:g.53436113C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53409182C>T , CM000685.2:g.53409182C>T	GRCh38
NC_000023.10:g.53436113C>T , CM000685.1:g.53436113C>T	GRCh37
NC_000023.9:g.53452838C>T	NCBI36
NG_006988.2:g.18489G>A , LRG_773:g.18489G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1425G>A MANE Select	ENSP00000323421.3:p.Lys475=
ENST00000674590.1:c.657G>A	ENSP00000502626.1:p.Lys219=
ENST00000675065.1:n.777G>A
ENST00000675504.1:c.1359G>A	ENSP00000502524.1:p.Lys453=
ENST00000322213.8:c.1425G>A	ENSP00000323421.3:p.Lys475=
ENST00000375340.10:c.1359G>A	ENSP00000364489.7:p.Lys453=
NM_001281463.1:c.1359G>A , LRG_773t1:c.1359G>A	NP_001268392.1:p.Lys453=
NM_006306.3:c.1425G>A , LRG_773t2:c.1425G>A	NP_006297.2:p.Lys475=
NM_006306.4:c.1425G>A MANE Select	NP_006297.2:p.Lys475=