Canonical Allele Identifier: CA2408210874
Gene: SMC1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45344116G= , CM000684.2:g.45344116G= GRCh38
NC_000022.10:g.45739997G= , CM000684.1:g.45739997G= GRCh37
NC_000022.9:g.44118661G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000357450.9:c.*440C= MANE Select ENSP00000350036.4:n.*440C=
ENST00000357450.8:c.4148C= ENSP00000350036.4:n.4148C=
NM_001291501.1:c.*440C= NP_001278430.1:n.*440C=
NM_148674.4:c.*440C= NP_683515.4:n.*440C=
XM_011530144.1:c.*440C= XP_011528446.1:n.*440C=
XR_244368.3:n.4137C=
XM_011530144.2:c.*440C= XP_011528446.1:n.*440C=
XR_244368.4:n.4182C=
NM_148674.5:c.*440C= MANE Select NP_683515.4:n.*440C=
NM_001291501.2:c.*440C= NP_001278430.1:n.*440C=