Canonical Allele Identifier: CA641884616

Gene: SMC1A

Linked Data

• dbSNP Id: rs1556885458
• gnomAD v2: X-53405212-A-C
• gnomAD v3: X-53378291-A-C
• gnomAD v4: X-53378291-A-C
• MyVariant Identifiers: chrX:g.53405212A>C (hg19) ; chrX:g.53378291A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53378291A>C , CM000685.2:g.53378291A>C	GRCh38
NC_000023.10:g.53405212A>C , CM000685.1:g.53405212A>C	GRCh37
NC_000023.9:g.53421937A>C	NCBI36
NG_006988.2:g.49380T>G , LRG_773:g.49380T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.*1812T>G MANE Select	ENSP00000323421.3:n.*1812T>G
ENST00000675504.1:c.*1812T>G	ENSP00000502524.1:n.*1812T>G
ENST00000322213.8:c.*1812T>G	ENSP00000323421.3:n.*1812T>G
ENST00000375340.10:c.*1812T>G	ENSP00000364489.7:n.*1812T>G
NM_001281463.1:c.*1812T>G , LRG_773t1:c.*1812T>G	NP_001268392.1:n.*1812T>G
NM_006306.3:c.*1812T>G , LRG_773t2:c.*1812T>G	NP_006297.2:n.*1812T>G
NM_006306.4:c.*1812T>G MANE Select	NP_006297.2:n.*1812T>G