Canonical Allele Identifier: CA2591117537
Gene: SMC1B HGNC NCBI

Linked Data

dbSNP Id: rs2146745030
gnomAD v3: 22-45344159-C-T
gnomAD v4: 22-45344159-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45344159C>T , CM000684.2:g.45344159C>T GRCh38
NC_000022.10:g.45740040C>T , CM000684.1:g.45740040C>T GRCh37
NC_000022.9:g.44118704C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000357450.9:c.*397G>A MANE Select ENSP00000350036.4:n.*397G>A
ENST00000357450.8:c.4105G>A ENSP00000350036.4:n.4105G>A
NM_001291501.1:c.*397G>A NP_001278430.1:n.*397G>A
NM_148674.4:c.*397G>A NP_683515.4:n.*397G>A
XM_011530144.1:c.*397G>A XP_011528446.1:n.*397G>A
XR_244368.3:n.4094G>A
XM_011530144.2:c.*397G>A XP_011528446.1:n.*397G>A
XR_244368.4:n.4139G>A
NM_148674.5:c.*397G>A MANE Select NP_683515.4:n.*397G>A
NM_001291501.2:c.*397G>A NP_001278430.1:n.*397G>A
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