Canonical Allele Identifier: CA2408210873

Gene: SMC1B

Linked Data

• dbSNP Id: rs2086525781

Genomic Alleles

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

Transcript Alleles

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