Canonical Allele Identifier: CA2408210888
Gene: SMC1B HGNC NCBI

Linked Data

dbSNP Id: rs2086526051
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Genomic Alleles

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

Transcript Alleles

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