Canonical Allele Identifier: CA16618443
Gene: MNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 420708
dbSNP Id: rs1064794653

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.157005841T>G , CM000669.2:g.157005841T>G GRCh38
NC_000007.13:g.156798535T>G , CM000669.1:g.156798535T>G GRCh37
NC_000007.12:g.156491296T>G NCBI36
NG_013212.1:g.9813A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252971.11:c.885A>C MANE Select ENSP00000252971.5:p.Lys295Asn
ENST00000252971.10:c.885A>C ENSP00000252971.5:p.Lys295Asn
ENST00000469500.5:c.55+3157A>C ENSP00000475129.1:n.55+3157A>C
ENST00000479817.1:c.38+3819A>C
ENST00000543409.5:c.249A>C ENSP00000438552.1:p.Lys83Asn
NM_001165255.1:c.249A>C NP_001158727.1:p.Lys83Asn
NM_005515.3:c.885A>C NP_005506.3:p.Lys295Asn
NM_005515.4:c.885A>C MANE Select NP_005506.3:p.Lys295Asn
NM_001165255.2:c.249A>C NP_001158727.1:p.Lys83Asn