Canonical Allele Identifier: CA413255504

Gene: SMC1A

Linked Data

• gnomAD v4: X-53409137-G-T
• MyVariant Identifiers: chrX:g.53436068G>T (hg19) ; chrX:g.53409137G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53409137G>T , CM000685.2:g.53409137G>T	GRCh38
NC_000023.10:g.53436068G>T , CM000685.1:g.53436068G>T	GRCh37
NC_000023.9:g.53452793G>T	NCBI36
NG_006988.2:g.18534C>A , LRG_773:g.18534C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1470C>A MANE Select	ENSP00000323421.3:p.Asp490Glu
ENST00000674590.1:c.702C>A	ENSP00000502626.1:p.Asp234Glu
ENST00000675065.1:n.822C>A
ENST00000675504.1:c.1404C>A	ENSP00000502524.1:p.Asp468Glu
ENST00000322213.8:c.1470C>A	ENSP00000323421.3:p.Asp490Glu
ENST00000375340.10:c.1404C>A	ENSP00000364489.7:p.Asp468Glu
NM_001281463.1:c.1404C>A , LRG_773t1:c.1404C>A	NP_001268392.1:p.Asp468Glu
NM_006306.3:c.1470C>A , LRG_773t2:c.1470C>A	NP_006297.2:p.Asp490Glu
NM_006306.4:c.1470C>A MANE Select	NP_006297.2:p.Asp490Glu