Canonical Allele Identifier: CA329907586

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 2712404
• ClinVar RCV Id: RCV003513106
• dbSNP Id: rs900972156
• gnomAD v2: X-53439217-G-A
• gnomAD v3: X-53412267-G-A
• gnomAD v4: X-53412267-G-A
• MyVariant Identifiers: chrX:g.53439217G>A (hg19) ; chrX:g.53412267G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53412267G>A , CM000685.2:g.53412267G>A	GRCh38
NC_000023.10:g.53439217G>A , CM000685.1:g.53439217G>A	GRCh37
NC_000023.9:g.53455942G>A	NCBI36
NG_006988.2:g.15404C>T , LRG_773:g.15404C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000322213.9:c.855-14C>T MANE Select	ENSP00000323421.3:n.855-14C>T
ENST00000674590.1:c.346-366C>T	ENSP00000502626.1:n.346-366C>T
ENST00000675065.1:n.466-366C>T
ENST00000675504.1:c.789-14C>T	ENSP00000502524.1:n.789-14C>T
ENST00000322213.8:c.855-14C>T	ENSP00000323421.3:n.855-14C>T
ENST00000375340.10:c.789-14C>T	ENSP00000364489.7:n.789-14C>T
ENST00000463684.1:c.*388-14C>T	ENSP00000476958.1:n.*388-14C>T
NM_001281463.1:c.789-14C>T , LRG_773t1:c.789-14C>T	NP_001268392.1:n.789-14C>T
NM_006306.3:c.855-14C>T , LRG_773t2:c.855-14C>T	NP_006297.2:n.855-14C>T
NM_006306.4:c.855-14C>T MANE Select	NP_006297.2:n.855-14C>T