Canonical Allele Identifier: CA2408210872

Gene: SMC1B

Linked Data

• dbSNP Id: rs2086525751
• gnomAD v4: 22-45344115-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45344115T>C , CM000684.2:g.45344115T>C	GRCh38
NC_000022.10:g.45739996T>C , CM000684.1:g.45739996T>C	GRCh37
NC_000022.9:g.44118660T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357450.9:c.*441A>G MANE Select	ENSP00000350036.4:n.*441A>G
ENST00000357450.8:c.4149A>G	ENSP00000350036.4:n.4149A>G
NM_001291501.1:c.*441A>G	NP_001278430.1:n.*441A>G
NM_148674.4:c.*441A>G	NP_683515.4:n.*441A>G
XM_011530144.1:c.*441A>G	XP_011528446.1:n.*441A>G
XR_244368.3:n.4138A>G
XM_011530144.2:c.*441A>G	XP_011528446.1:n.*441A>G
XR_244368.4:n.4183A>G
NM_148674.5:c.*441A>G MANE Select	NP_683515.4:n.*441A>G
NM_001291501.2:c.*441A>G	NP_001278430.1:n.*441A>G