Canonical Allele Identifier: CA10420496

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 1105506
• ClinVar RCV Id: RCV001429889
• dbSNP Id: rs370873072
• ExAC: X:53432297 G / A
• gnomAD v2: X-53432297-G-A
• gnomAD v3: X-53405365-G-A
• gnomAD v4: X-53405365-G-A
• MyVariant Identifiers: chrX:g.53432297G>A (hg19) ; chrX:g.53405365G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405365G>A , CM000685.2:g.53405365G>A	GRCh38
NC_000023.10:g.53432297G>A , CM000685.1:g.53432297G>A	GRCh37
NC_000023.9:g.53449022G>A	NCBI36
NG_006988.2:g.22306C>T , LRG_773:g.22306C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1938C>T MANE Select	ENSP00000323421.3:p.Phe646=
ENST00000674590.1:c.1170C>T	ENSP00000502626.1:p.Phe390=
ENST00000675065.1:n.1290C>T
ENST00000675504.1:c.1872C>T	ENSP00000502524.1:p.Phe624=
ENST00000322213.8:c.1938C>T	ENSP00000323421.3:p.Phe646=
ENST00000375340.10:c.1872C>T	ENSP00000364489.7:p.Phe624=
NM_001281463.1:c.1872C>T , LRG_773t1:c.1872C>T	NP_001268392.1:p.Phe624=
NM_006306.3:c.1938C>T , LRG_773t2:c.1938C>T	NP_006297.2:p.Phe646=
NM_006306.4:c.1938C>T MANE Select	NP_006297.2:p.Phe646=