Canonical Allele Identifier: CA413243389

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 989352
• ClinVar RCV Id: RCV001270858 ; RCV001565382
• dbSNP Id: rs2075586377
• MyVariant Identifiers: chrX:g.53409228C>T (hg19) ; chrX:g.53382307C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53382307C>T , CM000685.2:g.53382307C>T	GRCh38
NC_000023.10:g.53409228C>T , CM000685.1:g.53409228C>T	GRCh37
NC_000023.9:g.53425953C>T	NCBI36
NG_006988.2:g.45364G>A , LRG_773:g.45364G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000322213.9:c.3362G>A MANE Select	ENSP00000323421.3:p.Arg1121His
ENST00000674590.1:c.2594G>A	ENSP00000502626.1:p.Arg865His
ENST00000675504.1:c.3296G>A	ENSP00000502524.1:p.Arg1099His
ENST00000322213.8:c.3362G>A	ENSP00000323421.3:p.Arg1121His
ENST00000375340.10:c.3296G>A	ENSP00000364489.7:p.Arg1099His
ENST00000469129.1:n.218G>A
ENST00000470241.2:c.652G>A
NM_001281463.1:c.3296G>A , LRG_773t1:c.3296G>A	NP_001268392.1:p.Arg1099His
NM_006306.3:c.3362G>A , LRG_773t2:c.3362G>A	NP_006297.2:p.Arg1121His
NM_006306.4:c.3362G>A MANE Select	NP_006297.2:p.Arg1121His