Canonical Allele Identifier: CA325066481
Gene: SMC1B HGNC NCBI

Linked Data

dbSNP Id: rs553166736
gnomAD v3: 22-45344088-A-G
gnomAD v4: 22-45344088-A-G
MyVariant Identifiers: chr22:g.45739969A>G (hg19) chr22:g.45344088A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45344088A>G , CM000684.2:g.45344088A>G GRCh38
NC_000022.10:g.45739969A>G , CM000684.1:g.45739969A>G GRCh37
NC_000022.9:g.44118633A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000357450.9:c.*468T>C MANE Select ENSP00000350036.4:n.*468T>C
ENST00000357450.8:c.4176T>C ENSP00000350036.4:n.4176T>C
NM_001291501.1:c.*468T>C NP_001278430.1:n.*468T>C
NM_148674.4:c.*468T>C NP_683515.4:n.*468T>C
XM_011530144.1:c.*468T>C XP_011528446.1:n.*468T>C
XR_244368.3:n.4165T>C
XM_011530144.2:c.*468T>C XP_011528446.1:n.*468T>C
XR_244368.4:n.4210T>C
NM_148674.5:c.*468T>C MANE Select NP_683515.4:n.*468T>C
NM_001291501.2:c.*468T>C NP_001278430.1:n.*468T>C
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