Canonical Allele Identifier: CA329907255

Gene: SMC1A

Linked Data

• dbSNP Id: rs12851929
• MyVariant Identifiers: chrX:g.53432183C>T (hg19) ; chrX:g.53405251C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405251C>T , CM000685.2:g.53405251C>T	GRCh38
NC_000023.10:g.53432183C>T , CM000685.1:g.53432183C>T	GRCh37
NC_000023.9:g.53448908C>T	NCBI36
NG_006988.2:g.22420G>A , LRG_773:g.22420G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.2052G>A MANE Select	ENSP00000323421.3:p.Glu684=
ENST00000674590.1:c.1284G>A	ENSP00000502626.1:p.Glu428=
ENST00000675065.1:n.1404G>A
ENST00000675504.1:c.1986G>A	ENSP00000502524.1:p.Glu662=
ENST00000322213.8:c.2052G>A	ENSP00000323421.3:p.Glu684=
ENST00000375340.10:c.1986G>A	ENSP00000364489.7:p.Glu662=
NM_001281463.1:c.1986G>A , LRG_773t1:c.1986G>A	NP_001268392.1:p.Glu662=
NM_006306.3:c.2052G>A , LRG_773t2:c.2052G>A	NP_006297.2:p.Glu684=
NM_006306.4:c.2052G>A MANE Select	NP_006297.2:p.Glu684=