Canonical Allele Identifier: CA401753586
Gene: MIB1 HGNC NCBI

Linked Data

dbSNP Id: rs777854951
gnomAD v2: 18-19321671-G-A
MyVariant Identifiers: chr18:g.19321671G>A (hg19) chr18:g.21741710G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.21741710G>A , CM000680.2:g.21741710G>A GRCh38
NC_000018.9:g.19321671G>A , CM000680.1:g.19321671G>A GRCh37
NC_000018.8:g.17575669G>A NCBI36
NG_033272.2:g.41754G>A , LRG_759:g.41754G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261537.7:c.127G>A MANE Select ENSP00000261537.6:p.Glu43Lys
ENST00000261537.6:c.127G>A ENSP00000261537.6:p.Glu43Lys
ENST00000578646.5:n.168-24062G>A
NM_020774.3:c.127G>A , LRG_759t1:c.127G>A NP_065825.1:p.Glu43Lys
XR_935234.1:n.918G>A
XR_935235.1:n.918G>A
XM_017025874.1:c.127G>A XP_016881363.1:p.Glu43Lys
XM_017025875.1:c.127G>A XP_016881364.1:p.Glu43Lys
NM_020774.4:c.127G>A MANE Select NP_065825.1:p.Glu43Lys
Search 100 bp 5'
Search 100 bp 3'