Canonical Allele Identifier: CA2408210887
Gene: SMC1B HGNC NCBI

Linked Data

dbSNP Id: rs2086526051

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45344149T>A , CM000684.2:g.45344149T>A GRCh38
NC_000022.10:g.45740030T>A , CM000684.1:g.45740030T>A GRCh37
NC_000022.9:g.44118694T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000357450.9:c.*407A>T MANE Select ENSP00000350036.4:n.*407A>T
ENST00000357450.8:c.4115A>T ENSP00000350036.4:n.4115A>T
NM_001291501.1:c.*407A>T NP_001278430.1:n.*407A>T
NM_148674.4:c.*407A>T NP_683515.4:n.*407A>T
XM_011530144.1:c.*407A>T XP_011528446.1:n.*407A>T
XR_244368.3:n.4104A>T
XM_011530144.2:c.*407A>T XP_011528446.1:n.*407A>T
XR_244368.4:n.4149A>T
NM_148674.5:c.*407A>T MANE Select NP_683515.4:n.*407A>T
NM_001291501.2:c.*407A>T NP_001278430.1:n.*407A>T