Canonical Allele Identifier: CA356138390
Gene: MSX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862804C>A , CM000666.2:g.4862804C>A GRCh38
NC_000004.11:g.4864531C>A , CM000666.1:g.4864531C>A GRCh37
NC_000004.10:g.4915432C>A NCBI36
NG_008121.1:g.8140C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.573C>A MANE Select ENSP00000372170.4:p.Phe191Leu
ENST00000382723.4:c.573C>A ENSP00000372170.4:p.Phe191Leu
ENST00000468421.1:n.285C>A
NM_002448.3:c.573C>A MANE Select NP_002439.2:p.Phe191Leu