Canonical Allele Identifier: CA876270537

Gene: SMC1A

Linked Data

• dbSNP Id: rs1178559671
• gnomAD v3: X-53381992-G-C
• gnomAD v4: X-53381992-G-C
• MyVariant Identifiers: chrX:g.53381992G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53381992G>C , CM000685.2:g.53381992G>C	GRCh38
NC_000023.10:g.53408913G>C , CM000685.1:g.53408913G>C	GRCh37
NC_000023.9:g.53425638G>C	NCBI36
NG_006988.2:g.45679C>G , LRG_773:g.45679C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3437+240C>G MANE Select	ENSP00000323421.3:n.3437+240C>G
ENST00000674590.1:c.2669+240C>G	ENSP00000502626.1:n.2669+240C>G
ENST00000675504.1:c.3371+240C>G	ENSP00000502524.1:n.3371+240C>G
ENST00000322213.8:c.3437+240C>G	ENSP00000323421.3:n.3437+240C>G
ENST00000375340.10:c.3371+240C>G	ENSP00000364489.7:n.3371+240C>G
ENST00000469129.1:n.533C>G
ENST00000470241.2:c.727+240C>G
NM_001281463.1:c.3371+240C>G , LRG_773t1:c.3371+240C>G	NP_001268392.1:n.3371+240C>G
NM_006306.3:c.3437+240C>G , LRG_773t2:c.3437+240C>G	NP_006297.2:n.3437+240C>G
NM_006306.4:c.3437+240C>G MANE Select	NP_006297.2:n.3437+240C>G