Canonical Allele Identifier: CA413257755

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 1923352
• ClinVar RCV Id: RCV002604572
• dbSNP Id: rs1377540307
• gnomAD v3: X-53412161-T-C
• gnomAD v4: X-53412161-T-C
• MyVariant Identifiers: chrX:g.53439111T>C (hg19) ; chrX:g.53412161T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53412161T>C , CM000685.2:g.53412161T>C	GRCh38
NC_000023.10:g.53439111T>C , CM000685.1:g.53439111T>C	GRCh37
NC_000023.9:g.53455836T>C	NCBI36
NG_006988.2:g.15510A>G , LRG_773:g.15510A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000322213.9:c.947A>G MANE Select	ENSP00000323421.3:p.Lys316Arg
ENST00000674590.1:c.346-260A>G	ENSP00000502626.1:n.346-260A>G
ENST00000675065.1:n.466-260A>G
ENST00000675504.1:c.881A>G	ENSP00000502524.1:p.Lys294Arg
ENST00000322213.8:c.947A>G	ENSP00000323421.3:p.Lys316Arg
ENST00000375340.10:c.881A>G	ENSP00000364489.7:p.Lys294Arg
ENST00000463684.1:c.*480A>G	ENSP00000476958.1:n.*480A>G
NM_001281463.1:c.881A>G , LRG_773t1:c.881A>G	NP_001268392.1:p.Lys294Arg
NM_006306.3:c.947A>G , LRG_773t2:c.947A>G	NP_006297.2:p.Lys316Arg
NM_006306.4:c.947A>G MANE Select	NP_006297.2:p.Lys316Arg