Canonical Allele Identifier: CA413252344

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 1806133
• ClinVar RCV Id: RCV002470417
• gnomAD v4: X-53405309-C-T
• MyVariant Identifiers: chrX:g.53432241C>T (hg19) ; chrX:g.53405309C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405309C>T , CM000685.2:g.53405309C>T	GRCh38
NC_000023.10:g.53432241C>T , CM000685.1:g.53432241C>T	GRCh37
NC_000023.9:g.53448966C>T	NCBI36
NG_006988.2:g.22362G>A , LRG_773:g.22362G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1994G>A MANE Select	ENSP00000323421.3:p.Arg665His
ENST00000674590.1:c.1226G>A	ENSP00000502626.1:p.Arg409His
ENST00000675065.1:n.1346G>A
ENST00000675504.1:c.1928G>A	ENSP00000502524.1:p.Arg643His
ENST00000322213.8:c.1994G>A	ENSP00000323421.3:p.Arg665His
ENST00000375340.10:c.1928G>A	ENSP00000364489.7:p.Arg643His
NM_001281463.1:c.1928G>A , LRG_773t1:c.1928G>A	NP_001268392.1:p.Arg643His
NM_006306.3:c.1994G>A , LRG_773t2:c.1994G>A	NP_006297.2:p.Arg665His
NM_006306.4:c.1994G>A MANE Select	NP_006297.2:p.Arg665His