Canonical Allele Identifier: CA413253140

Gene: SMC1A

Linked Data

• dbSNP Id: rs2075688400
• gnomAD v3: X-53405615-C-T
• gnomAD v4: X-53405615-C-T
• MyVariant Identifiers: chrX:g.53432547C>T (hg19) ; chrX:g.53405615C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405615C>T , CM000685.2:g.53405615C>T	GRCh38
NC_000023.10:g.53432547C>T , CM000685.1:g.53432547C>T	GRCh37
NC_000023.9:g.53449272C>T	NCBI36
NG_006988.2:g.22056G>A , LRG_773:g.22056G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1789G>A MANE Select	ENSP00000323421.3:p.Val597Met
ENST00000674590.1:c.1021G>A	ENSP00000502626.1:p.Val341Met
ENST00000675065.1:n.1141G>A
ENST00000675504.1:c.1723G>A	ENSP00000502524.1:p.Val575Met
ENST00000322213.8:c.1789G>A	ENSP00000323421.3:p.Val597Met
ENST00000375340.10:c.1723G>A	ENSP00000364489.7:p.Val575Met
NM_001281463.1:c.1723G>A , LRG_773t1:c.1723G>A	NP_001268392.1:p.Val575Met
NM_006306.3:c.1789G>A , LRG_773t2:c.1789G>A	NP_006297.2:p.Val597Met
NM_006306.4:c.1789G>A MANE Select	NP_006297.2:p.Val597Met