Canonical Allele Identifier: CA641906910

Gene: SMC1A

Linked Data

• dbSNP Id: rs368182180
• gnomAD v2: X-53432338-G-C
• gnomAD v4: X-53405406-G-C
• MyVariant Identifiers: chrX:g.53432338G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405406G>C , CM000685.2:g.53405406G>C	GRCh38
NC_000023.10:g.53432338G>C , CM000685.1:g.53432338G>C	GRCh37
NC_000023.9:g.53449063G>C	NCBI36
NG_006988.2:g.22265C>G , LRG_773:g.22265C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1912-15C>G MANE Select	ENSP00000323421.3:n.1912-15C>G
ENST00000674590.1:c.1144-15C>G	ENSP00000502626.1:n.1144-15C>G
ENST00000675065.1:n.1264-15C>G
ENST00000675504.1:c.1846-15C>G	ENSP00000502524.1:n.1846-15C>G
ENST00000322213.8:c.1912-15C>G	ENSP00000323421.3:n.1912-15C>G
ENST00000375340.10:c.1846-15C>G	ENSP00000364489.7:n.1846-15C>G
NM_001281463.1:c.1846-15C>G , LRG_773t1:c.1846-15C>G	NP_001268392.1:n.1846-15C>G
NM_006306.3:c.1912-15C>G , LRG_773t2:c.1912-15C>G	NP_006297.2:n.1912-15C>G
NM_006306.4:c.1912-15C>G MANE Select	NP_006297.2:n.1912-15C>G