Canonical Allele Identifier: CA2580101214

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 2102610
• ClinVar RCV Id: RCV003019597
• gnomAD v4: X-53409273-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53409273C>G , CM000685.2:g.53409273C>G	GRCh38
NC_000023.10:g.53436204C>G , CM000685.1:g.53436204C>G	GRCh37
NC_000023.9:g.53452929C>G	NCBI36
NG_006988.2:g.18398G>C , LRG_773:g.18398G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1338-4G>C MANE Select	ENSP00000323421.3:n.1338-4G>C
ENST00000674590.1:c.570-4G>C	ENSP00000502626.1:n.570-4G>C
ENST00000675065.1:n.690-4G>C
ENST00000675504.1:c.1272-4G>C	ENSP00000502524.1:n.1272-4G>C
ENST00000322213.8:c.1338-4G>C	ENSP00000323421.3:n.1338-4G>C
ENST00000375340.10:c.1272-4G>C	ENSP00000364489.7:n.1272-4G>C
NM_001281463.1:c.1272-4G>C , LRG_773t1:c.1272-4G>C	NP_001268392.1:n.1272-4G>C
NM_006306.3:c.1338-4G>C , LRG_773t2:c.1338-4G>C	NP_006297.2:n.1338-4G>C
NM_006306.4:c.1338-4G>C MANE Select	NP_006297.2:n.1338-4G>C