Canonical Allele Identifier: CA413257333

Gene: SMC1A

Linked Data

• gnomAD v4: X-53412068-C-T
• MyVariant Identifiers: chrX:g.53439018C>T (hg19) ; chrX:g.53412068C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53412068C>T , CM000685.2:g.53412068C>T	GRCh38
NC_000023.10:g.53439018C>T , CM000685.1:g.53439018C>T	GRCh37
NC_000023.9:g.53455743C>T	NCBI36
NG_006988.2:g.15603G>A , LRG_773:g.15603G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1040G>A MANE Select	ENSP00000323421.3:p.Arg347Gln
ENST00000674590.1:c.346-167G>A	ENSP00000502626.1:n.346-167G>A
ENST00000675065.1:n.466-167G>A
ENST00000675504.1:c.974G>A	ENSP00000502524.1:p.Arg325Gln
ENST00000322213.8:c.1040G>A	ENSP00000323421.3:p.Arg347Gln
ENST00000375340.10:c.974G>A	ENSP00000364489.7:p.Arg325Gln
ENST00000463684.1:c.*573G>A	ENSP00000476958.1:n.*573G>A
NM_001281463.1:c.974G>A , LRG_773t1:c.974G>A	NP_001268392.1:p.Arg325Gln
NM_006306.3:c.1040G>A , LRG_773t2:c.1040G>A	NP_006297.2:p.Arg347Gln
NM_006306.4:c.1040G>A MANE Select	NP_006297.2:p.Arg347Gln