Canonical Allele Identifier: CA2408210879
Gene: SMC1B HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45344134C= , CM000684.2:g.45344134C= GRCh38
NC_000022.10:g.45740015C= , CM000684.1:g.45740015C= GRCh37
NC_000022.9:g.44118679C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000357450.9:c.*422G= MANE Select ENSP00000350036.4:n.*422G=
ENST00000357450.8:c.4130G= ENSP00000350036.4:n.4130G=
NM_001291501.1:c.*422G= NP_001278430.1:n.*422G=
NM_148674.4:c.*422G= NP_683515.4:n.*422G=
XM_011530144.1:c.*422G= XP_011528446.1:n.*422G=
XR_244368.3:n.4119G=
XM_011530144.2:c.*422G= XP_011528446.1:n.*422G=
XR_244368.4:n.4164G=
NM_148674.5:c.*422G= MANE Select NP_683515.4:n.*422G=
NM_001291501.2:c.*422G= NP_001278430.1:n.*422G=
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