Canonical Allele Identifier: CA2657274432

Gene: SMC1B

Linked Data

• gnomAD v4: 22-45344076-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45344076C>A , CM000684.2:g.45344076C>A	GRCh38
NC_000022.10:g.45739957C>A , CM000684.1:g.45739957C>A	GRCh37
NC_000022.9:g.44118621C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357450.9:c.*480G>T MANE Select	ENSP00000350036.4:n.*480G>T
ENST00000357450.8:c.4188G>T	ENSP00000350036.4:n.4188G>T
NM_001291501.1:c.*480G>T	NP_001278430.1:n.*480G>T
NM_148674.4:c.*480G>T	NP_683515.4:n.*480G>T
XM_011530144.1:c.*480G>T	XP_011528446.1:n.*480G>T
XR_244368.3:n.4177G>T
XM_011530144.2:c.*480G>T	XP_011528446.1:n.*480G>T
XR_244368.4:n.4222G>T
NM_148674.5:c.*480G>T MANE Select	NP_683515.4:n.*480G>T
NM_001291501.2:c.*480G>T	NP_001278430.1:n.*480G>T