Canonical Allele Identifier: CA2819159895

Gene: SMC1B

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45344094T>C , CM000684.2:g.45344094T>C	GRCh38
NC_000022.10:g.45739975T>C , CM000684.1:g.45739975T>C	GRCh37
NC_000022.9:g.44118639T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357450.9:c.*462A>G MANE Select	ENSP00000350036.4:n.*462A>G
ENST00000357450.8:c.4170A>G	ENSP00000350036.4:n.4170A>G
NM_001291501.1:c.*462A>G	NP_001278430.1:n.*462A>G
NM_148674.4:c.*462A>G	NP_683515.4:n.*462A>G
XM_011530144.1:c.*462A>G	XP_011528446.1:n.*462A>G
XR_244368.3:n.4159A>G
XM_011530144.2:c.*462A>G	XP_011528446.1:n.*462A>G
XR_244368.4:n.4204A>G
NM_148674.5:c.*462A>G MANE Select	NP_683515.4:n.*462A>G
NM_001291501.2:c.*462A>G	NP_001278430.1:n.*462A>G