Canonical Allele Identifier: CA2573159048

Gene: SMC1A MIR6857

Linked Data

• ClinVar Variation Id: 1559957
• ClinVar RCV Id: RCV002195316
• dbSNP Id: rs2146599868

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405691T>C , CM000685.2:g.53405691T>C	GRCh38
NC_000023.10:g.53432623T>C , CM000685.1:g.53432623T>C	GRCh37
NC_000023.9:g.53449348T>C	NCBI36
NG_006988.2:g.21980A>G , LRG_773:g.21980A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1732-19A>G (SMC1A) MANE Select	ENSP00000323421.3:n.1732-19A>G
ENST00000674590.1:c.964-19A>G (SMC1A)	ENSP00000502626.1:n.964-19A>G
ENST00000675065.1:n.1084-19A>G (SMC1A)
ENST00000675504.1:c.1666-19A>G (SMC1A)	ENSP00000502524.1:n.1666-19A>G
ENST00000322213.8:c.1732-19A>G (SMC1A)	ENSP00000323421.3:n.1732-19A>G
ENST00000375340.10:c.1666-19A>G (SMC1A)	ENSP00000364489.7:n.1666-19A>G
NM_001281463.1:c.1666-19A>G , LRG_773t1:c.1666-19A>G (SMC1A)	NP_001268392.1:n.1666-19A>G
NM_006306.3:c.1732-19A>G , LRG_773t2:c.1732-19A>G (SMC1A)	NP_006297.2:n.1732-19A>G
NR_106916.1:n.75A>G (MIR6857)
NM_006306.4:c.1732-19A>G (SMC1A) MANE Select	NP_006297.2:n.1732-19A>G