Canonical Allele Identifier: CA413243972

Gene: SMC1A

Linked Data

• gnomAD v4: X-53382541-T-C
• MyVariant Identifiers: chrX:g.53409462T>C (hg19) ; chrX:g.53382541T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53382541T>C , CM000685.2:g.53382541T>C	GRCh38
NC_000023.10:g.53409462T>C , CM000685.1:g.53409462T>C	GRCh37
NC_000023.9:g.53426187T>C	NCBI36
NG_006988.2:g.45130A>G , LRG_773:g.45130A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3250A>G MANE Select	ENSP00000323421.3:p.Ile1084Val
ENST00000674590.1:c.2482A>G	ENSP00000502626.1:p.Ile828Val
ENST00000675504.1:c.3184A>G	ENSP00000502524.1:p.Ile1062Val
ENST00000322213.8:c.3250A>G	ENSP00000323421.3:p.Ile1084Val
ENST00000375340.10:c.3184A>G	ENSP00000364489.7:p.Ile1062Val
ENST00000469129.1:n.106A>G
ENST00000470241.2:c.540A>G
NM_001281463.1:c.3184A>G , LRG_773t1:c.3184A>G	NP_001268392.1:p.Ile1062Val
NM_006306.3:c.3250A>G , LRG_773t2:c.3250A>G	NP_006297.2:p.Ile1084Val
NM_006306.4:c.3250A>G MANE Select	NP_006297.2:p.Ile1084Val