Canonical Allele Identifier: CA658191268
Gene: SMC1B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45344138G>A , CM000684.2:g.45344138G>A GRCh38
NC_000022.10:g.45740019G>A , CM000684.1:g.45740019G>A GRCh37
NC_000022.9:g.44118683G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000357450.9:c.*418C>T MANE Select ENSP00000350036.4:n.*418C>T
ENST00000357450.8:c.4126C>T ENSP00000350036.4:n.4126C>T
NM_001291501.1:c.*418C>T NP_001278430.1:n.*418C>T
NM_148674.4:c.*418C>T NP_683515.4:n.*418C>T
XM_011530144.1:c.*418C>T XP_011528446.1:n.*418C>T
XR_244368.3:n.4115C>T
XM_011530144.2:c.*418C>T XP_011528446.1:n.*418C>T
XR_244368.4:n.4160C>T
NM_148674.5:c.*418C>T MANE Select NP_683515.4:n.*418C>T
NM_001291501.2:c.*418C>T NP_001278430.1:n.*418C>T