Canonical Allele Identifier: CA6145355
Gene: UNC93B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 470492
ClinVar RCV Id: RCV000557212
dbSNP Id: rs543443741
ExAC: 11:67759217 G / T
gnomAD v2: 11-67759217-G-T
gnomAD v3: 11-67991746-G-T
gnomAD v4: 11-67991746-G-T
MyVariant Identifiers: chr11:g.67759217G>T (hg19) chr11:g.67991746G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67991746G>T , CM000673.2:g.67991746G>T GRCh38
NC_000011.9:g.67759217G>T , CM000673.1:g.67759217G>T GRCh37
NC_000011.8:g.67515793G>T NCBI36
NG_007581.1:g.17378C>A , LRG_123:g.17378C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000227471.7:c.1594C>A MANE Select ENSP00000227471.3:p.Pro532Thr
ENST00000227471.6:c.1594C>A ENSP00000227471.3:p.Pro532Thr
ENST00000610659.4:n.255-384C>A
NM_030930.3:c.1594C>A NP_112192.2:p.Pro532Thr
XM_011545290.1:c.1183C>A XP_011543592.1:p.Pro395Thr
XM_011545291.1:c.1039C>A XP_011543593.1:p.Pro347Thr
XM_011545291.2:c.1039C>A XP_011543593.1:p.Pro347Thr
NM_030930.4:c.1594C>A MANE Select NP_112192.2:p.Pro532Thr
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