Canonical Allele Identifier: CA1133178693

Gene: SMC1A MIR6857

Linked Data

• dbSNP Id: rs2078971739
• gnomAD v3: X-53405699-A-G
• gnomAD v4: X-53405699-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405699A>G , CM000685.2:g.53405699A>G	GRCh38
NC_000023.10:g.53432631A>G , CM000685.1:g.53432631A>G	GRCh37
NC_000023.9:g.53449356A>G	NCBI36
NG_006988.2:g.21972T>C , LRG_773:g.21972T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1732-27T>C (SMC1A) MANE Select	ENSP00000323421.3:n.1732-27T>C
ENST00000674590.1:c.964-27T>C (SMC1A)	ENSP00000502626.1:n.964-27T>C
ENST00000675065.1:n.1084-27T>C (SMC1A)
ENST00000675504.1:c.1666-27T>C (SMC1A)	ENSP00000502524.1:n.1666-27T>C
ENST00000322213.8:c.1732-27T>C (SMC1A)	ENSP00000323421.3:n.1732-27T>C
ENST00000375340.10:c.1666-27T>C (SMC1A)	ENSP00000364489.7:n.1666-27T>C
NM_001281463.1:c.1666-27T>C , LRG_773t1:c.1666-27T>C (SMC1A)	NP_001268392.1:n.1666-27T>C
NM_006306.3:c.1732-27T>C , LRG_773t2:c.1732-27T>C (SMC1A)	NP_006297.2:n.1732-27T>C
NR_106916.1:n.67T>C (MIR6857)
NM_006306.4:c.1732-27T>C (SMC1A) MANE Select	NP_006297.2:n.1732-27T>C