Canonical Allele Identifier: CA641906901

Gene: SMC1A

Linked Data

• dbSNP Id: rs1556889513
• gnomAD v2: X-53432165-C-T
• gnomAD v3: X-53405233-C-T
• gnomAD v4: X-53405233-C-T
• MyVariant Identifiers: chrX:g.53432165C>T (hg19) ; chrX:g.53405233C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405233C>T , CM000685.2:g.53405233C>T	GRCh38
NC_000023.10:g.53432165C>T , CM000685.1:g.53432165C>T	GRCh37
NC_000023.9:g.53448890C>T	NCBI36
NG_006988.2:g.22438G>A , LRG_773:g.22438G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.2058+12G>A MANE Select	ENSP00000323421.3:n.2058+12G>A
ENST00000674590.1:c.1290+12G>A	ENSP00000502626.1:n.1290+12G>A
ENST00000675065.1:n.1410+12G>A
ENST00000675504.1:c.1992+12G>A	ENSP00000502524.1:n.1992+12G>A
ENST00000322213.8:c.2058+12G>A	ENSP00000323421.3:n.2058+12G>A
ENST00000375340.10:c.1992+12G>A	ENSP00000364489.7:n.1992+12G>A
NM_001281463.1:c.1992+12G>A , LRG_773t1:c.1992+12G>A	NP_001268392.1:n.1992+12G>A
NM_006306.3:c.2058+12G>A , LRG_773t2:c.2058+12G>A	NP_006297.2:n.2058+12G>A
NM_006306.4:c.2058+12G>A MANE Select	NP_006297.2:n.2058+12G>A