Canonical Allele Identifier: CA124402
Gene: MNX1 HGNC NCBI
MNX1-AS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 14851
ClinVar RCV Id: RCV000015976
dbSNP Id: rs121912546
MyVariant Identifiers: chr7:g.156799250G>A (hg19) chr7:g.157006556G>A (hg38)
PubMed: PMID:7550324 PMID:9843207
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.157006556G>A , CM000669.2:g.157006556G>A GRCh38
NC_000007.13:g.156799250G>A , CM000669.1:g.156799250G>A GRCh37
NC_000007.12:g.156492011G>A NCBI36
NG_013212.1:g.9098C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252971.11:c.775C>T (MNX1) MANE Select ENSP00000252971.5:p.Gln259Ter
ENST00000252971.10:c.775C>T (MNX1) ENSP00000252971.5:p.Gln259Ter
ENST00000425745.1:c.56-683C>T (MNX1) ENSP00000416458.1:n.56-683C>T
ENST00000428439.1:c.139C>T (MNX1) ENSP00000401158.1:p.Gln47Ter
ENST00000469500.5:c.55+2442C>T (MNX1) ENSP00000475129.1:n.55+2442C>T
ENST00000474448.1:c.*177C>T (MNX1) ENSP00000473965.1:n.*177C>T
ENST00000479817.1:c.38+3104C>T (MNX1)
ENST00000543409.5:c.139C>T (MNX1) ENSP00000438552.1:p.Gln47Ter
NM_001165255.1:c.139C>T (MNX1) NP_001158727.1:p.Gln47Ter
NM_005515.3:c.775C>T (MNX1) NP_005506.3:p.Gln259Ter
XR_928257.1:n.544+132G>A (MNX1-AS2)
NR_147077.1:n.118+132G>A (MNX1-AS2)
NM_005515.4:c.775C>T (MNX1) MANE Select NP_005506.3:p.Gln259Ter
NM_001165255.2:c.139C>T (MNX1) NP_001158727.1:p.Gln47Ter
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