Canonical Allele Identifier: CA2553168905

Gene: SMC1B

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45344151T>G , CM000684.2:g.45344151T>G	GRCh38
NC_000022.10:g.45740032T>G , CM000684.1:g.45740032T>G	GRCh37
NC_000022.9:g.44118696T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357450.9:c.*405A>C MANE Select	ENSP00000350036.4:n.*405A>C
ENST00000357450.8:c.4113A>C	ENSP00000350036.4:n.4113A>C
NM_001291501.1:c.*405A>C	NP_001278430.1:n.*405A>C
NM_148674.4:c.*405A>C	NP_683515.4:n.*405A>C
XM_011530144.1:c.*405A>C	XP_011528446.1:n.*405A>C
XR_244368.3:n.4102A>C
XM_011530144.2:c.*405A>C	XP_011528446.1:n.*405A>C
XR_244368.4:n.4147A>C
NM_148674.5:c.*405A>C MANE Select	NP_683515.4:n.*405A>C
NM_001291501.2:c.*405A>C	NP_001278430.1:n.*405A>C