Canonical Allele Identifier: CA753642710
Gene: SMC1B HGNC NCBI

Linked Data

dbSNP Id: rs1239867016
gnomAD v3: 22-45344104-C-G
gnomAD v4: 22-45344104-C-G
MyVariant Identifiers: chr22:g.45739985C>G (hg19) chr22:g.45344104C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45344104C>G , CM000684.2:g.45344104C>G GRCh38
NC_000022.10:g.45739985C>G , CM000684.1:g.45739985C>G GRCh37
NC_000022.9:g.44118649C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000357450.9:c.*452G>C MANE Select ENSP00000350036.4:n.*452G>C
ENST00000357450.8:c.4160G>C ENSP00000350036.4:n.4160G>C
NM_001291501.1:c.*452G>C NP_001278430.1:n.*452G>C
NM_148674.4:c.*452G>C NP_683515.4:n.*452G>C
XM_011530144.1:c.*452G>C XP_011528446.1:n.*452G>C
XR_244368.3:n.4149G>C
XM_011530144.2:c.*452G>C XP_011528446.1:n.*452G>C
XR_244368.4:n.4194G>C
NM_148674.5:c.*452G>C MANE Select NP_683515.4:n.*452G>C
NM_001291501.2:c.*452G>C NP_001278430.1:n.*452G>C
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