Canonical Allele Identifier: CA10420554

Gene: SMC1A

Linked Data

• dbSNP Id: rs782631509
• ExAC: X:53436086 T / C
• gnomAD v2: X-53436086-T-C
• gnomAD v4: X-53409155-T-C
• MyVariant Identifiers: chrX:g.53436086T>C (hg19) ; chrX:g.53409155T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53409155T>C , CM000685.2:g.53409155T>C	GRCh38
NC_000023.10:g.53436086T>C , CM000685.1:g.53436086T>C	GRCh37
NC_000023.9:g.53452811T>C	NCBI36
NG_006988.2:g.18516A>G , LRG_773:g.18516A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1452A>G MANE Select	ENSP00000323421.3:p.Leu484=
ENST00000674590.1:c.684A>G	ENSP00000502626.1:p.Leu228=
ENST00000675065.1:n.804A>G
ENST00000675504.1:c.1386A>G	ENSP00000502524.1:p.Leu462=
ENST00000322213.8:c.1452A>G	ENSP00000323421.3:p.Leu484=
ENST00000375340.10:c.1386A>G	ENSP00000364489.7:p.Leu462=
NM_001281463.1:c.1386A>G , LRG_773t1:c.1386A>G	NP_001268392.1:p.Leu462=
NM_006306.3:c.1452A>G , LRG_773t2:c.1452A>G	NP_006297.2:p.Leu484=
NM_006306.4:c.1452A>G MANE Select	NP_006297.2:p.Leu484=