Canonical Allele Identifier: CA413255771

Gene: SMC1A

Linked Data

• MyVariant Identifiers: chrX:g.53436183T>G (hg19) ; chrX:g.53409252T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53409252T>G , CM000685.2:g.53409252T>G	GRCh38
NC_000023.10:g.53436183T>G , CM000685.1:g.53436183T>G	GRCh37
NC_000023.9:g.53452908T>G	NCBI36
NG_006988.2:g.18419A>C , LRG_773:g.18419A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1355A>C MANE Select	ENSP00000323421.3:p.Gln452Pro
ENST00000674590.1:c.587A>C	ENSP00000502626.1:p.Gln196Pro
ENST00000675065.1:n.707A>C
ENST00000675504.1:c.1289A>C	ENSP00000502524.1:p.Gln430Pro
ENST00000322213.8:c.1355A>C	ENSP00000323421.3:p.Gln452Pro
ENST00000375340.10:c.1289A>C	ENSP00000364489.7:p.Gln430Pro
NM_001281463.1:c.1289A>C , LRG_773t1:c.1289A>C	NP_001268392.1:p.Gln430Pro
NM_006306.3:c.1355A>C , LRG_773t2:c.1355A>C	NP_006297.2:p.Gln452Pro
NM_006306.4:c.1355A>C MANE Select	NP_006297.2:p.Gln452Pro