Canonical Allele Identifier: CA2408210849
Gene: SMC1B HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45344064T= , CM000684.2:g.45344064T= GRCh38
NC_000022.10:g.45739945T= , CM000684.1:g.45739945T= GRCh37
NC_000022.9:g.44118609T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000357450.9:c.*492A= MANE Select ENSP00000350036.4:n.*492A=
ENST00000357450.8:c.4200A= ENSP00000350036.4:n.4200A=
NM_001291501.1:c.*492A= NP_001278430.1:n.*492A=
NM_148674.4:c.*492A= NP_683515.4:n.*492A=
XM_011530144.1:c.*492A= XP_011528446.1:n.*492A=
XR_244368.3:n.4189A=
NM_148674.5:c.*492A= MANE Select NP_683515.4:n.*492A=
NM_001291501.2:c.*492A= NP_001278430.1:n.*492A=
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