Canonical Allele Identifier: CA2657274446
Gene: SMC1B HGNC NCBI

Linked Data

gnomAD v4: 22-45344133-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45344133G>T , CM000684.2:g.45344133G>T GRCh38
NC_000022.10:g.45740014G>T , CM000684.1:g.45740014G>T GRCh37
NC_000022.9:g.44118678G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000357450.9:c.*423C>A MANE Select ENSP00000350036.4:n.*423C>A
ENST00000357450.8:c.4131C>A ENSP00000350036.4:n.4131C>A
NM_001291501.1:c.*423C>A NP_001278430.1:n.*423C>A
NM_148674.4:c.*423C>A NP_683515.4:n.*423C>A
XM_011530144.1:c.*423C>A XP_011528446.1:n.*423C>A
XR_244368.3:n.4120C>A
XM_011530144.2:c.*423C>A XP_011528446.1:n.*423C>A
XR_244368.4:n.4165C>A
NM_148674.5:c.*423C>A MANE Select NP_683515.4:n.*423C>A
NM_001291501.2:c.*423C>A NP_001278430.1:n.*423C>A
Search 100 bp 5'
Search 100 bp 3'