Canonical Allele Identifier: CA2429825280

Gene: SMC1A

Linked Data

• dbSNP Id: rs1556889549
• gnomAD v4: X-53405420-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405420G>C , CM000685.2:g.53405420G>C	GRCh38
NC_000023.10:g.53432352G>C , CM000685.1:g.53432352G>C	GRCh37
NC_000023.9:g.53449077G>C	NCBI36
NG_006988.2:g.22251C>G , LRG_773:g.22251C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1912-29C>G MANE Select	ENSP00000323421.3:n.1912-29C>G
ENST00000674590.1:c.1144-29C>G	ENSP00000502626.1:n.1144-29C>G
ENST00000675065.1:n.1264-29C>G
ENST00000675504.1:c.1846-29C>G	ENSP00000502524.1:n.1846-29C>G
ENST00000322213.8:c.1912-29C>G	ENSP00000323421.3:n.1912-29C>G
ENST00000375340.10:c.1846-29C>G	ENSP00000364489.7:n.1846-29C>G
NM_001281463.1:c.1846-29C>G , LRG_773t1:c.1846-29C>G	NP_001268392.1:n.1846-29C>G
NM_006306.3:c.1912-29C>G , LRG_773t2:c.1912-29C>G	NP_006297.2:n.1912-29C>G
NM_006306.4:c.1912-29C>G MANE Select	NP_006297.2:n.1912-29C>G