Canonical Allele Identifier: CA413241833

Gene: SMC1A

Linked Data

• gnomAD v4: X-53380636-A-G
• MyVariant Identifiers: chrX:g.53407557A>G (hg19) ; chrX:g.53380636A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53380636A>G , CM000685.2:g.53380636A>G	GRCh38
NC_000023.10:g.53407557A>G , CM000685.1:g.53407557A>G	GRCh37
NC_000023.9:g.53424282A>G	NCBI36
NG_006988.2:g.47035T>C , LRG_773:g.47035T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3602T>C MANE Select	ENSP00000323421.3:p.Ile1201Thr
ENST00000674590.1:c.2834T>C	ENSP00000502626.1:p.Ile945Thr
ENST00000675504.1:c.3536T>C	ENSP00000502524.1:p.Ile1179Thr
ENST00000322213.8:c.3602T>C	ENSP00000323421.3:p.Ile1201Thr
ENST00000375340.10:c.3536T>C	ENSP00000364489.7:p.Ile1179Thr
ENST00000470241.2:c.822T>C
NM_001281463.1:c.3536T>C , LRG_773t1:c.3536T>C	NP_001268392.1:p.Ile1179Thr
NM_006306.3:c.3602T>C , LRG_773t2:c.3602T>C	NP_006297.2:p.Ile1201Thr
NM_006306.4:c.3602T>C MANE Select	NP_006297.2:p.Ile1201Thr