Canonical Allele Identifier: CA413252154

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 753669
• ClinVar RCV Id: RCV000930925 ; RCV003483747
• dbSNP Id: rs1556889522
• gnomAD v2: X-53432196-C-T
• gnomAD v4: X-53405264-C-T
• MyVariant Identifiers: chrX:g.53432196C>T (hg19) ; chrX:g.53405264C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405264C>T , CM000685.2:g.53405264C>T	GRCh38
NC_000023.10:g.53432196C>T , CM000685.1:g.53432196C>T	GRCh37
NC_000023.9:g.53448921C>T	NCBI36
NG_006988.2:g.22407G>A , LRG_773:g.22407G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.2039G>A MANE Select	ENSP00000323421.3:p.Arg680His
ENST00000674590.1:c.1271G>A	ENSP00000502626.1:p.Arg424His
ENST00000675065.1:n.1391G>A
ENST00000675504.1:c.1973G>A	ENSP00000502524.1:p.Arg658His
ENST00000322213.8:c.2039G>A	ENSP00000323421.3:p.Arg680His
ENST00000375340.10:c.1973G>A	ENSP00000364489.7:p.Arg658His
NM_001281463.1:c.1973G>A , LRG_773t1:c.1973G>A	NP_001268392.1:p.Arg658His
NM_006306.3:c.2039G>A , LRG_773t2:c.2039G>A	NP_006297.2:p.Arg680His
NM_006306.4:c.2039G>A MANE Select	NP_006297.2:p.Arg680His