Canonical Allele Identifier: CA413244141

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 1057501
• ClinVar RCV Id: RCV001366494
• dbSNP Id: rs2146582586
• gnomAD v4: X-53382564-G-A
• MyVariant Identifiers: chrX:g.53409485G>A (hg19) ; chrX:g.53382564G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53382564G>A , CM000685.2:g.53382564G>A	GRCh38
NC_000023.10:g.53409485G>A , CM000685.1:g.53409485G>A	GRCh37
NC_000023.9:g.53426210G>A	NCBI36
NG_006988.2:g.45107C>T , LRG_773:g.45107C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3227C>T MANE Select	ENSP00000323421.3:p.Ser1076Phe
ENST00000674590.1:c.2459C>T	ENSP00000502626.1:p.Ser820Phe
ENST00000675504.1:c.3161C>T	ENSP00000502524.1:p.Ser1054Phe
ENST00000322213.8:c.3227C>T	ENSP00000323421.3:p.Ser1076Phe
ENST00000375340.10:c.3161C>T	ENSP00000364489.7:p.Ser1054Phe
ENST00000469129.1:n.83C>T
ENST00000470241.2:c.517C>T
NM_001281463.1:c.3161C>T , LRG_773t1:c.3161C>T	NP_001268392.1:p.Ser1054Phe
NM_006306.3:c.3227C>T , LRG_773t2:c.3227C>T	NP_006297.2:p.Ser1076Phe
NM_006306.4:c.3227C>T MANE Select	NP_006297.2:p.Ser1076Phe