Canonical Allele Identifier: CA259690

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 29929
• ClinVar RCV Id: RCV000022820 ; RCV000441375 ; RCV000623393
• dbSNP Id: rs387906702
• MyVariant Identifiers: chrX:g.53430567A>G (hg19) ; chrX:g.53403635A>G (hg38)
• PubMed: PMID:7757074 ; PMID:16604071 ; PMID:17221863 ; PMID:17273969 ; PMID:19842212 ; PMID:20635401 ; PMID:22106055 ; PMID:23106691 ; PMID:24896178 ; PMID:25537356 ; PMID:26354354 ; PMID:26358754 ; PMID:26386245 ; PMID:26752331 ; PMID:27159028 ; PMID:28102598 ; PMID:28548707

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53403635A>G , CM000685.2:g.53403635A>G	GRCh38
NC_000023.10:g.53430567A>G , CM000685.1:g.53430567A>G	GRCh37
NC_000023.9:g.53447292A>G	NCBI36
NG_006988.2:g.24036T>C , LRG_773:g.24036T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.2351T>C MANE Select	ENSP00000323421.3:p.Ile784Thr
ENST00000674590.1:c.1583T>C	ENSP00000502626.1:p.Ile528Thr
ENST00000675504.1:c.2285T>C	ENSP00000502524.1:p.Ile762Thr
ENST00000322213.8:c.2351T>C	ENSP00000323421.3:p.Ile784Thr
ENST00000375340.10:c.2285T>C	ENSP00000364489.7:p.Ile762Thr
NM_001281463.1:c.2285T>C , LRG_773t1:c.2285T>C	NP_001268392.1:p.Ile762Thr
NM_006306.3:c.2351T>C , LRG_773t2:c.2351T>C	NP_006297.2:p.Ile784Thr
NM_006306.4:c.2351T>C MANE Select	NP_006297.2:p.Ile784Thr