Canonical Allele Identifier: CA2693805245

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 2853987
• ClinVar RCV Id: RCV003625904
• gnomAD v4: X-53405482-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405482G>A , CM000685.2:g.53405482G>A	GRCh38
NC_000023.10:g.53432414G>A , CM000685.1:g.53432414G>A	GRCh37
NC_000023.9:g.53449139G>A	NCBI36
NG_006988.2:g.22189C>T , LRG_773:g.22189C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1911+11C>T MANE Select	ENSP00000323421.3:n.1911+11C>T
ENST00000674590.1:c.1143+11C>T	ENSP00000502626.1:n.1143+11C>T
ENST00000675065.1:n.1263+11C>T
ENST00000675504.1:c.1845+11C>T	ENSP00000502524.1:n.1845+11C>T
ENST00000322213.8:c.1911+11C>T	ENSP00000323421.3:n.1911+11C>T
ENST00000375340.10:c.1845+11C>T	ENSP00000364489.7:n.1845+11C>T
NM_001281463.1:c.1845+11C>T , LRG_773t1:c.1845+11C>T	NP_001268392.1:n.1845+11C>T
NM_006306.3:c.1911+11C>T , LRG_773t2:c.1911+11C>T	NP_006297.2:n.1911+11C>T
NM_006306.4:c.1911+11C>T MANE Select	NP_006297.2:n.1911+11C>T