Canonical Allele Identifier: CA2579615798
Gene: SMC1A HGNC NCBI
MIR6857 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53405723G>T , CM000685.2:g.53405723G>T GRCh38
NC_000023.10:g.53432655G>T , CM000685.1:g.53432655G>T GRCh37
NC_000023.9:g.53449380G>T NCBI36
NG_006988.2:g.21948C>A , LRG_773:g.21948C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322213.9:c.1731+48C>A (SMC1A) MANE Select ENSP00000323421.3:n.1731+48C>A
ENST00000674590.1:c.963+48C>A (SMC1A) ENSP00000502626.1:n.963+48C>A
ENST00000675065.1:n.1083+48C>A (SMC1A)
ENST00000675504.1:c.1665+48C>A (SMC1A) ENSP00000502524.1:n.1665+48C>A
ENST00000322213.8:c.1731+48C>A (SMC1A) ENSP00000323421.3:n.1731+48C>A
ENST00000375340.10:c.1665+48C>A (SMC1A) ENSP00000364489.7:n.1665+48C>A
NM_001281463.1:c.1665+48C>A , LRG_773t1:c.1665+48C>A (SMC1A) NP_001268392.1:n.1665+48C>A
NM_006306.3:c.1731+48C>A , LRG_773t2:c.1731+48C>A (SMC1A) NP_006297.2:n.1731+48C>A
NR_106916.1:n.43C>A (MIR6857)
NM_006306.4:c.1731+48C>A (SMC1A) MANE Select NP_006297.2:n.1731+48C>A
Search 100 bp 5'
Search 100 bp 3'