Canonical Allele Identifier: CA2429825345
Gene: SMC1A HGNC NCBI
MIR6857 HGNC NCBI

Linked Data

dbSNP Id: rs2075688616

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53405682_53405683dup , CM000685.2:g.53405682_53405683dup GRCh38
NC_000023.10:g.53432614_53432615dup , CM000685.1:g.53432614_53432615dup GRCh37
NC_000023.9:g.53449339_53449340dup NCBI36
NG_006988.2:g.21990_21991dup , LRG_773:g.21990_21991dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000322213.9:c.1732-9_1732-8dup (SMC1A) MANE Select ENSP00000323421.3:n.1732-9_1732-8dup
ENST00000674590.1:c.964-9_964-8dup (SMC1A) ENSP00000502626.1:n.964-9_964-8dup
ENST00000675065.1:n.1084-9_1084-8dup (SMC1A)
ENST00000675504.1:c.1666-9_1666-8dup (SMC1A) ENSP00000502524.1:n.1666-9_1666-8dup
ENST00000322213.8:c.1732-9_1732-8dup (SMC1A) ENSP00000323421.3:n.1732-9_1732-8dup
ENST00000375340.10:c.1666-9_1666-8dup (SMC1A) ENSP00000364489.7:n.1666-9_1666-8dup
NM_001281463.1:c.1666-9_1666-8dup , LRG_773t1:c.1666-9_1666-8dup (SMC1A) NP_001268392.1:n.1666-9_1666-8dup
NM_006306.3:c.1732-9_1732-8dup , LRG_773t2:c.1732-9_1732-8dup (SMC1A) NP_006297.2:n.1732-9_1732-8dup
NR_106916.1:n.85_86dup (MIR6857)
NM_006306.4:c.1732-9_1732-8dup (SMC1A) MANE Select NP_006297.2:n.1732-9_1732-8dup