Canonical Allele Identifier: CA329906112

Gene: SMC1A

Linked Data

• dbSNP Id: rs782076893
• gnomAD v2: X-53408918-G-A
• gnomAD v3: X-53381997-G-A
• gnomAD v4: X-53381997-G-A
• MyVariant Identifiers: chrX:g.53408918G>A (hg19) ; chrX:g.53381997G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53381997G>A , CM000685.2:g.53381997G>A	GRCh38
NC_000023.10:g.53408918G>A , CM000685.1:g.53408918G>A	GRCh37
NC_000023.9:g.53425643G>A	NCBI36
NG_006988.2:g.45674C>T , LRG_773:g.45674C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3437+235C>T MANE Select	ENSP00000323421.3:n.3437+235C>T
ENST00000674590.1:c.2669+235C>T	ENSP00000502626.1:n.2669+235C>T
ENST00000675504.1:c.3371+235C>T	ENSP00000502524.1:n.3371+235C>T
ENST00000322213.8:c.3437+235C>T	ENSP00000323421.3:n.3437+235C>T
ENST00000375340.10:c.3371+235C>T	ENSP00000364489.7:n.3371+235C>T
ENST00000469129.1:n.528C>T
ENST00000470241.2:c.727+235C>T
NM_001281463.1:c.3371+235C>T , LRG_773t1:c.3371+235C>T	NP_001268392.1:n.3371+235C>T
NM_006306.3:c.3437+235C>T , LRG_773t2:c.3437+235C>T	NP_006297.2:n.3437+235C>T
NM_006306.4:c.3437+235C>T MANE Select	NP_006297.2:n.3437+235C>T