Canonical Allele Identifier: CA356138349
Gene: MSX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.4864511C>A (hg19) chr4:g.4862784C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862784C>A , CM000666.2:g.4862784C>A GRCh38
NC_000004.11:g.4864511C>A , CM000666.1:g.4864511C>A GRCh37
NC_000004.10:g.4915412C>A NCBI36
NG_008121.1:g.8120C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.553C>A MANE Select ENSP00000372170.4:p.Leu185Met
ENST00000382723.4:c.553C>A ENSP00000372170.4:p.Leu185Met
ENST00000468421.1:n.265C>A
NM_002448.3:c.553C>A MANE Select NP_002439.2:p.Leu185Met
Search 100 bp 5'
Search 100 bp 3'